Category Archives: Molecular Genetics

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GeneID Lab Advanced Molecular Diagnostics

Montvale, NJ

$35,000 a year

Veterans Affairs, Veterans Health Administration

New Orleans, LA

$103,395 - $264,000 a year

Medical Management Group

Harris County

SingulOmics Corporation

University of California, Davis

Cancer Genetics Inc

EGL Genetic Diagnostics LLC

Ann & Robert H. Lurie Childrens Hospital of Chica...

George Washington University

Battelle

University of Illinois at Chicago

Lighthouse Lab Services

Charleston, SC 29402

$15 an hour

Advanced Molecular Diagnostics

Montvale, NJ

$70,000 - $80,000 a year

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Research Assistant salaries in United States

$13.64 per hour

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Molecular Genetics Jobs, Employment | Indeed.com

I welcome you to the Department of Microbiology and Molecular Genetics. Our department is uniquely positioned in two colleges at the University of Vermont: the Robert Larner, M.D., College of Medicine (LCOM) and the College of Agriculture and Life Sciences (CALS). At CALS, MMG hosts two outstanding undergraduate majors, Microbiology and Molecular Genetics. Our highly-recognized faculty educators work closely with our undergraduate students throughout their years at UVM as they become excellent scientists and innovative, critical thinkers. At LCOM, our faculty are closely engaged with teaching and training medical students, as well as graduate students, in our Cellular, Molecular and Biomedical Sciences (CMB) Ph.D. program and Medical Masters program.

Our faculty are highly focused on research, which spans from basic-science inquiry in the fields of Microbiology; Cell, Molecular and Structural biology; to applied and translational research in human immunology, vaccine, and bioinformatics and genetics. MMG hosts a nationally recognized team exploring the mechanisms of DNA Repair, research that is critically important to human diseases, including cancer. The recent addition of the UVM Vaccine Testing Center team to MMG complements our research portfolio by adding significant new depth in clinical and translational human immunology and vaccinology, as well as U.S.-based and international clinical trials, all with a focus on preventing and controlling infectious diseases of global importance.

Thank you for your interest in MMG. We look forward to hearing from you!

Beth Kirkpatrick, M.D.Professor and Chair, Department of Microbiology and Molecular GeneticsDirector, Vaccine Testing Center

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Department of Microbiology and Molecular Genetics

List of Genetics & Molecular Biology Conferences 2nd Annual summit on Cell Signaling and Cancer Therapy September 19 - 20, 2018 Philadelphia, USA5th World Congress on Synthetic Biology and Advanced Biomaterials September 19-20, 2018 Tokyo, Japan2nd Annual summit on Cell Metabolism and Cytopathology September 19 - 20, 2018 Philadelphia, USA5th International Conference on Human Genetics and Genetic Diseases September 21-22, 2018 Philadelphia, USA11th International Conference on Genomics and Pharmacogenomics September 21-22, 2018 Philadelphia, USA10th Annual Conference on Stem Cell and Regenerative Medicine October 08-09, 2018 Zurich, Switzerland21st European Biotechnology Congress October 11-12, 2018 Moscow, Russia11th Annual Conference on Stem Cell and Regenerative Medicine October 15-16, 2018 Helsinki, FinlandAnnual Congress on Cellular Therapies, Cancer, Stem Cells and Bio Medical Engineering October 17-18, 2018 New York, USA11th International Conference on Tissue Engineering & Regenerative Medicine October 18-20, 2018 Rome, Italy4th International Conference on Synthetic Biology and Tissue Engineering October 18-19, 2018 Rome, Italy24th Biotechnology Congress: Research & Innovations October 24-25, 2018 Boston, USAAnnual congress on CRISPR-Cas9 Technology and Genetic Engineering October 24-25, 2018 Boston, USA2nd Annual Summit on Cell Therapy, Tissue Science and Regenerative Medicine November 9-10, 2018 Atlanta, USA2nd Annual Summit on Stem Cell Research, Cell and Gene Therapy November 9-10, 2018 Atlanta, USA12th International Conference & Exhibition on Tissue Preservation, Life care and Biobanking (B2B & Networking) November 9-10, 2018 Philadelphia, USA9th International conference on Tissue Science and Regenerative Medicine November 12-13, 2018 Singapore City, Singapore4th International Conference on Advances in Biotechnology and Bioscience November 15-17, 2018 Berlin, Germany5th World Congress on Epigenetics and Chromosome November 15-16, 2018 Istanbul, Turkey22nd World Congress on Biotechnology November 19-20, 2018 Bangkok, ThailandInternational Epigenetics and Epitranscriptomics Conference November 26-27, 2018 Helsinki, Finland8th International Conference on Cell & Gene Therapy November 27-28, 2018 Athens, Greece3rd World Biotechnology Congress Dec 03-04, 2018 Sao Paulo, BrazilInternational Conference on Biotechnology and Health Care December 06-07, 2018 Hanoi, Japan11th World Congress on Cell Science, Stem Cell Research & Regenerative Medicine December 07-08, 2018 Chicago, USA13th Annual Conference on Stem Cell & Regenerative Medicine March 07-09, 2019 Nice, France12th World Congress on Cell & Tissue Science March 11-12, 2019 Singapore City, Singapore14th International Conference on Metabolomics and Enzymology March 18-19, 2019 New York, USA2nd World Congress on Cell and Structural Biology March 20-21, 2019 Sydney, Australia 9th International Conference and Exhibition on Advanced Cell and Gene Therapy March 21-22, 2019 Rome, Italy11th World Congress and Expo on Cell & Stem Cell Research March 25-26, 2019 Orlando, USA6th World Congress on Human Genetics and Genetic Diseases April 08-10, 2019 Abu Dhabi, UAE9th World Congress on Plant Genomics and Plant Sciences April 11-12, 2019 Wellington, Newzealand12th International Conference on Genomics and Molecular Biology April 15-17, 2019 Berlin, Germany7th International Conference on Integrative Biology April 15-16, 2019 Berlin, Germany14th International Conference on Tissue Science , Engineering & Regenerative Medicine April 22-23, 2019 Vancouver, CanadaInternational Conference on Cord Blood Banking and Stem cell April 22-23, 2019 Vancouver, Canada12th World Conference on Human Genomics and Genomic Medicine April 22-23, 2019 Abu Dhabi, UAE14th International Conference on Tissue Engineering & Regenerative Medicine April 29-30, 2019 Amsterdam, Netherlands25th Asia Pacific Biotechnology Congress May 01-02, 2019 Kyoto, Japan7th Asia Pacific Plant Biology and Plant Science Congress May 01-02, 2019 Seoul, South Korea10 th Tissue Repair and Regeneration Congress June 10-12, 2019 Helsinki, Finland6th Annual Congress on Biology and Medicine of Molecules June 10-12, 2019 Helsinki, Finland2nd Annual Biotechnology Congress July 29-30, 2019 Chicago, USAMolecular Medicine 2019 Dubai, UAEGenetics Stemcell 2019 Tokyo, JapanInternational Cystic Fibrosis Conference: A cure for all September 20-21, 2018 Dubai, UAE

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Peer Reviewed Genetics and Molecular Biology Journals ...

Molecular geneticists with a BS degree often work as laboratory technicians. They are in demand to work on research projects in universities. Federal and state government agencies such as the National Institutes of Health, the Department of Energy, the Department of Agriculture and the Environmental Protection Agency hire molecular geneticists to work on a variety of applied research problems. In the private sector, agricultural and pharmaceutical companies are increasingly hiring molecular geneticists to apply their skillsto genetic engineering as well as classical breeding programs. The newand growing biotechnology industry is largely based on the expertise of molecular geneticists.

Many molecular genetics majors go to medical or other professional schools. The major program is rigorous, and molecular genetics is an important area in modern medicine. Also, well-qualified majors are encouraged to participate in the facultys research programs. As a result, molecular genetics majors have been successful in gaining entrance to professional schools.

Many molecular genetics graduates go on to graduate school. A few of these get an MS degree, which qualifies them for higher-paying laboratory technician jobs. Most go directly to the PhD program. Molecular geneticists with a PhD are widely employed by government and industry to design and supervise research and development projects. Nearly all colleges and universities have molecular geneticists on their faculties, teaching and doing research. Molecular geneticists with a PhD plus postdoctoral research training are eligible for faculty positions at research-oriented universities like Ohio State.

An undergraduate major in molecular genetics does not limit ones options to careers in medicine or biological research. Because this major provides the academic preparation and strong science background appropriate for students who plan careers in marketing, business or management in high technology industries, some molecular genetics students choose to use their science background to pursue a professional degree in business or law. A few students choose to put their molecular genetics training to use by obtaining a masters degree in education and becoming science teachers.

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Molecular Genetics - The Ohio State University

2007228 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations 5-Fluorouracil Sensitivity 5-FU, 5-Fluorouracil Toxicity and Chemotherapeutic Response Panel, Pharmacogenetics (PGx), Colorectal Cancer 2012166 Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations 5-Fluorouracil Sensitivity DYPD 5-Fluorouracil toxicity5-FU toxicity5-FU toxicity5FU toxicityAdrucil (DPYD) Genotyping, 3 MutationsXeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPDUftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations 0051266 Achondroplasia (FGFR3) 2 Mutations Achondroplasia AD PCR, Skeletal Dysplasias, Neuroblastoma 0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias 2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Alpha Thalassemia AG FGA, 2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Alpha Thalassemia HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin 0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Alpha Thalassemia ALPHA THAL, Hemoglobinopathies 2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome ALPORT FGARenal disease, chronic kidney disease, hematuria 0051786 Alport Syndrome, X-linked (COL4A5) Sequencing Alport Syndrome ALPORT FGSRenal disease, chronic kidney disease, hematuria 2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Alzheimer's Disease APOE AZ 2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments 2005564 Angelman Syndrome (UBE3A) Sequencing Angelman Syndrome UBE3A FGS 2012232 Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal Angelman Syndrome AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS 2006540 Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes Aortopathies AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2 2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies FBN1 FGA 2005589 Marfan Syndrome (FBN1) Sequencing Aortopathies FBN1 FGS 2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies LDS FGS, Loeys-Dietz, aortic aneurysm see Loeys-Dietz Syndrome Aortopathies see Marfan Syndrome and FBN1-Related Disorders Aortopathies 0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB) APO B, Risk Markers - CVD (Non-traditional) 2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Apolipoprotein E (APOE) APOE AZ 2013337 Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk Apolipoprotein E (APOE) APOE CR 0051415 Ashkenazi Jewish Diseases, 16 Genes Ashkenazi Jewish Panel (16 disorders) AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 2013725 ABCC8-Related Hyperinsulinism, 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013745 NEB-Related Nemaline Myopathy, 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 0051433 Bloom Syndrome (BLM),1 Variant Ashkenazi Jewish Panel (16 disorders) BLM, Jewish Genetic 0051453 Canavan Disease (ASPA), 4 Variants Ashkenazi Jewish Panel (16 disorders) ASPA, Jewish Genetic 0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Ashkenazi Jewish Panel (16 disorders) IKBKAP, Jewish Genetic Disease 0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Ashkenazi Jewish Panel (16 disorders) FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA 0051438 Gaucher Disease (GBA), 8 Variants Ashkenazi Jewish Panel (16 disorders) GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase 2013740 Glycogen Storage Disease, Type 1A (G6PC), 9 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013909 Joubert Syndrome Type 2 (TMEM216), 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013735 Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2013730 Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Ashkenazi Jewish Panel (16 disorders) MCOLN1, Jewish Genetic, lysosomal 0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Ashkenazi Jewish Panel (16 disorders) SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del 0051428 Tay-Sachs Disease (HEXA), 7 Variants Ashkenazi Jewish Panel (16 disorders) HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W 2013750 Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders) 2014314 Autism and Intellectual Disability Comprehensive Panel Autism Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray 0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Autism PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication Autism CDKL5 FGA, X-linked infantile spasm 2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments 2005564 Angelman Syndrome (UBE3A) Sequencing Autism UBE3A FGS 2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Beta Globin BG FGA, Beta thalassemia, beta globin, HBB 0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin BG SEQ FE 0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin HB SCE FE 0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase 0051730 Biotinidase Deficiency (BTD) Sequencing Additional Technical Information Biotinidase Deficiency BTD FGS, Multiple carboxylase 0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Blood Genotyping RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic 0050421 RhCc Antigen (RHCE) Genotyping Blood Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility 0050423 RhEe Antigen (RHCE) Genotyping Blood Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility 0051644 Kell K/k Antigen (KEL) Genotyping Blood Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano 0051433 Bloom Syndrome (BLM),1 Variant Bloom Syndrome BLM, Jewish Genetic 2012026 Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes Breast Cancer BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 2011949 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication Breast Cancer BRCA FGA, BRACA, HBOC 2011954 Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing Breast Cancer BRCA FGS, BRACA, HBOC 2002722 PTEN-Related Disorders Sequencing Breast Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Breast Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Breast Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Breast Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Breast Cancer STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation 2008394 Peutz-Jeghers Syndrome (STK11) Sequencing Breast Cancer STK11, STK11 FGS, hamartomatous polyps, mucocutaneous hypergigmentation 0051453 Canavan Disease (ASPA), 4 Variants Canavan Disease ASPA, Jewish Genetic 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Cancer, Hereditary CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes) Cardiomyopathy CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCLABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) 2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency PCD FGA, OCTN2, carnitine uptake 0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency PCD FGS, OCTN2, carnitine uptake 0051415 Ashkenazi Jewish Diseases, 16 Genes Carrier Screening Panels AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15 3000258 Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Carrier Screening Panels CF FX SMA 2014674 Expanded Carrier Screen Genotyping Carrier Screening Panels ECS GENO 2014671 Expanded Carrier Screen Genotyping with Fragile X Carrier Screening Panels ECS GEN FX 2014680 Expanded Carrier Screen by Next Generation Sequencing Carrier Screening Panels ECS SEQ 2014677 Expanded Carrier Screen by Next Generation Sequencing with Fragile X Carrier Screening Panels ECS SEQ FX 2004931 CDKL5-Related Disorders (CDKL5) Sequencing Additional Technical Information CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm 2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm 2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as: Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD Celiac Disease HLA CELIAC 2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Central Nervous System Cancer VHL FGA, Brain Tumors, Pheochromocytoma 2002970 Von Hippel-Lindau (VHL) Sequencing Central Nervous System Cancer VHL FGS, Congenital polycythemia 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Central Nervous System Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Central Nervous System Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Central Nervous System Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2012160 Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Charcot-Marie-Tooth Disease CMT DD, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012155 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Charcot-Marie-Tooth Disease CMT REFLEX,AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012151 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing Charcot-Marie-Tooth Disease CMT SEQ, AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2,DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10,HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2,MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A,SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARS 2012609 CHARGE Syndrome, CHD7 Sequencing CHARGE Syndrome 2012717 CHARGE Syndrome (CHD7) Sequencing, Fetal CHARGE Syndrome 2002065 Chimerism, Recipient Pre-Transplant Chimerism STR-PRE 2002067 Chimerism, Donor Chimerism STR-DONOR 2002064 Chimerism, Post-Transplant, Sorted Cells Chimerism STR-POSTSC 2002066 Chimerism, Post-Transplant Chimerism STR-POST 3000544 Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Chronic Granulomatous Disease CGD PAN, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 3000541 Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing Chronic Granulomatous Disease CYBB FGS , Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 2006366 Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Chronic Granulomatous Disease NCF1, Cytochrome b-Positive, Type I, NCF1 Deficiency, Niemann-Pick Disease Type A, p47-PHOX, Soluble Oxidase Component II 2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency CITRIN FGSCitrin DeficiencyCitrullinemia Type II Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I 2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) Cobalamin/Propionate/Homocysteine Metabolism Related Disorders VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2Methylmalonic aciduria and homocystinuria, cblJ typeCombined malonic and methylmalonic aciduriaMegaloblastic anemia-1, Norwegian typeHomocystinuria due to cystathionine beta-synthase deficiencyMethylmalonic aciduria due to transcobalamin receptor defectMegaloblastic anemia-1, Finnish typeIntrinsic factor deficiencyMethylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF typeMethionine adenosyltransferase deficiencyMethylmalonyl-CoA epimerase deficiencyMethylmalonic aciduria, cblA typeMethylmalonic aciduria, cblB typeMethylmalonic aciduria and homocystinuria, cblC typeMethylmalonic aciduria and homocystinuria, cblD typeHomocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activityHomocystinuria-megaloblastic anemia, cblG typeHomocystinuria-megaloblastic anemia, cbl E typeMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencyPropionic acidemiaMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)Transcobalamin I deficiencyTranscobalamin II deficiency 2013386 Congenital Adrenal Hyperplasia (CAH) (21-Hydroxylase Deficiency) Common Mutations Congenital Adrenal Hyperplasia (CAH) 2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia CAMT FGS, GeneDx 2008610 Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication Creatine SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency 2008615 Creatine Transporter Deficiency (SLC6A8) Sequencing Additional Technical Information Creatine SLC6A8 FGS, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency 0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF 0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF 2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants Cystic Fibrosis CF VAR 2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal Cystic Fibrosis CF VAR FE 2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing Cystic Fibrosis CF VAR SEQ 2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis CFVAR COMP 2014547 Cytochrome P450 2D6 (CYP2D6) 15 Variants and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers 2012769 Cytochrome P450 2C19, CYP2C19 - 9 Variants Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers 2012766 Cytochrome P450 2C9, CYP2C9 - 2 Variants Additional Technical Information Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx) 2012740 Cytochrome P450 3A5 Genotyping, CYP3A5, 2 Variants Cytochrome P450 2013098 Cytochrome P450 Genotype Panel Cytochrome P450 CYP PAN 2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia RPL5 FGS, GeneDx 2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia RPL11 FGS 2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia RPS19 FGS 2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Duchenne/Becker Muscular Dystrophy DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Duchenne/Becker Muscular Dystrophy DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Duchenne/Becker Muscular Dystrophy DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Duchenne/Becker Muscular Dystrophy DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita TERC FGS, GeneDx 2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita DKC1 FGS 2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Dystrophinopathies DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Dystrophinopathies DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Dystrophinopathies DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Dystrophinopathies DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD 0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6Ehlers-Danlos Syndrome, Kyphoscoliotic FormEDS Kyphoscoliotic FormEDS Type VIEDS VIEhlers-Danlos Syndrome Type VILysyl-Hydroxylase DeficiencyEhlers-Danlos Syndrome Type VIANevo SyndromePLOD1Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1EDSVIEDS6EDS 6 2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA 2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Endocrine Cancer MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) 2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Endocrine Cancer MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN) 0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Endocrine Cancer MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene 2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Endocrine Cancer VHL FGA, Brain Tumors, Pheochromocytoma 2002970 Von Hippel-Lindau (VHL) Sequencing Endocrine Cancer VHL FGS, Congenital polycythemia 2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Endocrine Cancer 2012032 Cancer Panel, Hereditary, Sequencing and Deletion/Duplication, 47 Genes Endocrine Cancer CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel 2006948 SDHB with Interpretation by Immunohistochemistry Endocrine Cancer 2011461 Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Additional Technical Information Endocrine Cancer SDHA FGS 2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2002722 PTEN-Related Disorders Sequencing Endocrine Cancer PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Endocrine Cancer 2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Endocrine Cancer PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism 2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Endocrine Cancer TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2009302 Li-Fraumeni (TP53) Sequencing Endocrine Cancer TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret 2007533 Progressive Myoclonic Epilepsy (PME) Panel, Sequence Analysis and Exon-Level Deletion/Duplication Additional Technical Information Epilepsy PROG EPIL, seizures, PME, myoclonus, Lafora, Unverricht-Lundborg, neuronal ceroid lipofuscinoses, NCL, PRICKLE1, EPM2A, EPM2B, NHLRC1, CSTB, PPT1, CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10, TPP1, MFSD8, CTSD, GeneDx 2006069 Febrile Seizures Panel Epilepsy FEBRIL PAN 2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy CHILD EPIL, Early-onset epileptic encephalopathy, SCN1A, Sodium channel protein type 1 alpha, PCDH19, Protocadherin-19, SLC2A1, Solute carrier family 2, facilitated glucose transporter member 1, POLG, DNA polymerase subunit gamma-1, SCN2A, Sodium channel protein type 2 alpha, Generalized epilepsy with febrile seizures plus, GEFS+, SCN1A, Sodium channel protein type 1 alpha, SCN1B, Sodium channel subunit beta-1, GABRG2, Gamma-aminobutyric acid receptor subunit gamma-2, SCN2A, Sodium channel protein type 2 alpha, Juvenile Myoclonic Epilepsy, JME, EFHC1, EF-hand domain-containing protein 1, CACNB4, Voltage-dependent L-type calcium channel subunit beta-4, GABRA1, Gamma-aminobutyric acid receptor subunit alpha-1, Progressive Myoclonic Epilepsy, EPM2A, Laforin, NHLRC1, EPM2B, NHL repeat-containing protein 1, malin, CSTB, Cystatin-B, PRICKLE1, Prickle-like protein 1, Autosomal Dominant Focal Epilepsies, CHRNA4, Neuronal acetylcholine receptor alpha-4, CHRNB2, Neuronal acetylcholine receptor beta-2, CHRNA2, Neuronal acetylcholine receptor alpha-2, LGI1, Leucine-rich glioma-inactivated protein 1, atypical Rett syndromes, MECP2, Methyl CpG binding protein 2, CDKL5, Cyclin-dependent kinase-like 5, FOXG1, Forkhead box protein G1, Angelman, Angelman-like, Pitt-Hopkins, UBE3A, Ubiquitin protein ligase E3A, SLC9A6, Sodium/hydrogen exchanger 6, TCF4, Transcription factor 4, NRXN1, Neurexin-1, CNTNAP2, Contactin-associated protein-like 2, Mowat-Wilson, ZEB2, Zinc finger E-box-binding, homeobox 2, Creatine deficiency, GAMT, Guanidinoacetate N-methyltransferase, GATM, Glycine amidinotransferase, mitochondrial, Neuronal Ceroid Lipofuscinoses, NCL, PPT1, CLN1, Palmitoyl-protein thioesterase 1, TPP1, CLN2,Tripeptidyl-peptidase 1, CLN3, Battenin, CLN5, Ceroid-lipofuscinosis neuronal protein 5, CLN6, Ceroid-lipofuscinosis neuronal protein 6, MFSD8, CLN7, Major facilitator superfamily domain-containing protein 8, CLN8, Ceroid-lipofuscinosis neuronal protein 8, CTSD, CLN10, Cathepsin D, Adenosuccinate lyase deficiency, ADSL, Adenylosuccinate lyase, SYN1, Synapsin-1, Microcephaly with early-onset intractable seizures and developmental delay, MCSZ, PNK, Bifunctional polynucleotide, phosphatase/kinase, seizures, GeneDx 2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy INFANT EPIL; SCN1A; PCDH19; SLC2A1; POLG; SCN2A; SCN1A; SCN1B; GABRG2; EFHC1; CACNB4; GABRA1; EPM2A; NHLRC1; EPM2B; CSTB; PRICKLE1; CHRNA4; CHRNB2; CHRNA2; LGI1; MECP2; CDKL5; FOXG1; UBE3A; SLC9A6; TCF4; NRXN1; CNTNAP2; ZEB2; GAMT; GATM; PPT1; CLN1; TPP1; CLN2; CLN3; CLN5; CLN6; MFSD8; CLN7; CLN8; CTSD; CLN10; ADSL; SYN1; PNKP; benign familial neonatal seizures; generalized epilepsy with febrile seizures; juvenile myoclonic epilepsy; progressive myoclonic epilepsy; autosomal dominant focal epilepsies; Rett/atypical Rett syndromes; Angelman/Angelman-like/Pitt-Hopkins syndromes; Mowat-Wilson syndrome; creatine deficiency syndromes; neuronal ceroid lipofuscinoses; adenosuccinate lyase deficiency; epilepsy with variable learning and behavioral disorders; microcephaly with early onset intractable seizures and developmental delay", GeneDx 2006332 Exome Sequencing with Symptom-Guided Analysis Exome EXOME SEQ 2006336 Exome Sequencing Symptom-Guided Analysis, Patient Only Exome EXOSEQ PRO 0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G 2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting 2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer 2004863 Familial Adenomatous Polyposis (APC) Sequencing Familial Adenomatous Polyposis APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer 2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer, MAP, MUTH Associated Polyposis 2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis MUTYH, FGS, MYH 2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis MUTYH RFLX MYH 0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Familial Dysautonomia IKBKAP, Jewish Genetic Disease 2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA 2001961 Familial Mutation, Targeted Sequencing

The following genes are available:ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

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Molecular Genetics | ARUP Laboratories

Genetics & Molecular Biology Journal is an international scholarly, peer reviewed journal presenting original research contributions and scientific advances related to the field of genes, genetic variation and macromolecules. Molecular biology is the study of development, structure and function of macromolecules vital for life. It deals with the molecular basis of biological activity and overlays genetics and biochemistry.

The journal Scope Encompasses structure & functional studies of bio molecular, Cell Biology, Microbial genetics, Biological Molecules, molecular immunology, genetics, genetic disorders, cellular biology and molecular research. It also includes biochemical and molecular influence on genetic material. Genetics & Molecular Biology broadly covers the domains of life, plants, animals, microorganism and human.

The journal accepts manuscripts in the form of original research article, review article, short communication, case report, letter-to-the-Editor and Editorials for publication in an open access platform.

The Journal is using Editor Manager System for easy online tracking and managing of the manuscript processing.

Submit manuscript atwww.editorialmanager.com/imedpub/or send as an e-mail attachment to the Editorial Office at[emailprotected]

Cell biologyis a branch of biology that studies cells their physiological properties, their structure, the organelles they contain, interactions with their environment, their life cycle, division, death and cell function. Research in cell biology is closely related to genetics, biochemistry, molecular biology, immunology, and developmental biology.

Related Journals of Cell BiologyCell Science & Therapy, Cell & Developmental Biology, Cellular and Molecular Biology, Cell Biology: Research & Therapy, Molecular Biology, Genes to Cells, Journal of Molecular Cell Biology, Biology of the Cell, Developmental Cell, Developmental Cell, Eukaryotic Cell, European Cells and Materials

Gene technology is defined as the term which include a range of activities concerned with understanding of gene expression, advantages of natural genetic variation, modifying genes and transferring genes to new hosts. Genes are found in all living organisms and are transferred from one generation to the next.Gene technology encompasses several techniques including marker-assisted breeding, RNAi and genetic modification. Only some gene technologies produce genetically modified organisms. We use the most appropriate technique, or combination of techniques, to achieve the desired goal.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Bioinformatics is the application of computer technology to the management of biological information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied to gene-based drug discovery and development. Bioinformatics tools aid in the comparison of genetic and genomic data and more generally in the understanding of evolutionary aspects of molecular biology. At a more integrative level, it helps analyze and catalogue the biological pathways and networks that are an important part of systems biology. In structural biology, it aids in the simulation and modeling of DNA, RNA, and protein structures as well as molecular interactions.

Related Journalsof Bioinformatics

Proteomics & Bioinformatics, Bioinformatics, Proteins: Structure, Function and Genetics, BMC Bioinformatics, Briefings in Bioinformatics, IEEE/ACM Transactions on Computational Biology and Bioinformatics

Comparative genomics It is an exciting new field of biological research in which the genome sequences of different species - human, mouse and a wide variety of other organisms from yeast to chimpanzees are compared.

Related Journals of Comparative genomics

Journal of Proteomics & Bioinformatics, Journal of Genetic Syndromes & Gene Therapy, International Journal of Biomedical Data Mining, Journal of Pharmacogenomics & Pharmacoproteomics, Functional & Integrative Genomics, Microbiome, Evolutionary and Genomic Microbiology, Genomics and Comparative Genomics, Journal of Virology, Comparative Biochemistry and Physiology Part D: Genomics and Proteomics, BMC Genomics, Comparative and Functional Genomics, Current Bioinformatics

Genetic mutation is a permanent change in the DNA.Mutations may or may not produce changes in the organism.Hereditary mutations and Somatic mutations are the two types of Gene mutations.Former type is inherited from the parents and are present in every cell of the human body whereas latter type may occur at some point of life time due to environmental factors..

Related Journals of Genetic MutationsGenetic Medicine, Genetic Engineering, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Human Molecular Genetics, Genetic mutations Journals, Journal of Genetic Counseling, Genetic Journals, Genetic Disorder Articles, Journal of Genetic Mutation Disorders.

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product. These products are usually proteins which functions as enzymes, hormones and receptors. Genes which do not code for proteins such as ribosomal RNA or transfer RNA code for functional RNA products. Gene expression is the process by which the genetic code the nucleotide sequence of a gene is used to direct protein synthesis and produce the structures of the cell. Genes that code for amino acid sequences are called as structural genes.

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Gene Technology, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics,Journal of Proteomics & Bioinformatics, Transcriptomics: Open Access, Critical Reviews in Eukaryotic Gene Expression, Gene Expression, Gene Expression Patterns, Brain research, Gene expression patterns, Critical Reviews in Eukaryotic Gene Expression.

Molecular cloning is a set of techniques used to insert recombinant DNA from a prokaryotic or eukaryotic source into a replicating vehicle such as plasmids or viral vectors. Cloning refers to making numerous copies of a DNA fragment of interest, such as a gene.

Related Journals of Molecular cloning

Gene Technology, Cloning & Transgenesis, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics, Transcriptomics: Open Access, Stem Cells and Cloning Advances and Applications, Clinical Genetics, Clinical Genetics, Forensic Science International: Genetics, Advances in Genetics.

Molecular genetics is a branch of genetics and molecular biology that deals with the structure and function of genes at a cellular and molecular level. One of the main achievements of molecular genetics is that now one can have the clarity about the chemical nature of the gene. Molecular genetics is concerned with the arrangement of genes on DNA molecule, the replication of DNA, the transcription of DNA into RNA, and the translation of RNA into proteins. Gene amplification, separation and detection, and expression are some of the general techniques used for molecular genetics.

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Journal of Molecular and Genetic Medicine, Tissue Science & Engineering, Cell Biology: Research & Therapy, Advances in Genetic Engineering & Biotechnology, Cloning & Transgenesis, Journal of Molecular Biology: Open Access , Molecular Cell, Genetics and Molecular Biology, BMC Molecular Biology, Advances in Molecular and Cell Biology, Molecular Biology of the Cell

It is the branch that explores the relationship between the immune system and genetics. The term immunogenetics is based on two words immunology and genetics. Immunology deals with the biological and biochemical basis for the body's defense against germs such as bacteria, virus and mycosis.

Related Journals of Immunogenetics

Immunogenetics: Open Access, Journal of Antivirals & Antiretrovirals, Journal of Clinical & Cellular Immunology, Journal of Data Mining in Genomics & Proteomics, Immunogenetics, International Journal of Immunogenetics, Immunology and Immunogenetics Insights, International Journal of Immunogenetics.

Evolutionary Genetics is the study of how genetic variations leads to evolutionary changes. It includes evolution of genome structure, genetic change in response to selection within populations, and the genetic basis of speciation and adaptation

Related Journals of Evolutionary Genetics

Genetic Syndromes & Gene Therapy, Phylogenetics & Evolutionary Biology, Genetic Disorders & Genetic Reports, Cell & Developmental Biology, Journal of Social, Evolutionary, and Cultural Psychology, Journal of Evolutionary Economics, Evolutionary Computation, Genetic Programming and Evolvable Machines, Genetic Counseling, Genetic Epidemiology.

The methods used to identify the locus of a gene and the distances betweengenes.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Cloning is defined as the processes used to create copies of DNA fragments, cells or organisms. Cloning is commonly used to amplify DNA fragments containing whole genes, but it can also be used to amplify any DNA sequence such as promoters, non-coding sequences and randomly fragmented DNA. It is widely used technique of biological experiments and practical applications including genetic fingerprinting to large scale protein production.

Related Journals of Cloning

Gene Technology, Cloning & Transgenesis, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics, Transcriptomics: Open Access, Stem Cells and Cloning Advances and Applications, Clinical Genetics, Clinical Genetics, Forensic Science International: Genetics, Advances in Genetics.

Gene Sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method or technology that is used to determine the order of the four basesadenine, guanine, cytosine, and thyminein a strand of DNA.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Genetic Engineering is a technique of controlled manipulation of genes to change the genetic makeup of cells and move genes across species boundaries to produce novel organisms.

Related journals of Ethics in genetic engineering

Current Synthetic and Systems Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Advances in Genetics, BMC Medical Genetics, BMC Genetics, Conservation Genetics, Epigenetics, Infection, Genetics and Evolution, Journal of Assisted Reproduction and Genetics, Neurogenetics, Psychiatric Genetics.

Molecular Medicine strives to promote the understanding of normal body functioning and disease pathogenesis at the molecular level, and to allow researchers and physician-scientists to use that knowledge in the design of specific tools for disease diagnosis, treatment, prognosis, and prevention.

Related Journals for Molecular Medicine

Biomedicine Journals, Journal of Biomedical Science, Journal of Biomedical Research, Translational Biomedicine Journal, Aperito International Journal of Biomedicine, Asian Biomedicine Systems Biomedicine, Biomedical Journal, Biomedicine International Journal, Biomedicine Journal

Molecular biology is the study of biology at the molecular level. The field overlaps with other areas of biology and chemistry, particularly genetics and biochemistry. Cell biology studies the properties of cells including their physiological properties, their structure, the organelles they contain, interactions with their environment, their life cycle, division and death. Molecular and cellular biology are interrelated, since most of the properties and functions of a cell can be described at the molecular level. Molecular and cellular biology encompass many biological fields including: biotechnology, developmental biology, physiology, genetics and microbiology.

Related Journals of Molecular Cell Biology

Cell and Developmental Biology, Journal of Cell Biology, Nature Reviews Molecular Cell Biology, Nature Cell Biology, Current Opinion in Cell Biology, Trends in Cell Biology.

The process by which amino acids are linearly arranged into proteins through the involvement of ribosomal RNA, transfer RNA, messenger RNA, and various enzymes.

Related Journals of Protein Interaction

Cell & Developmental Biology, Advancements in Genetic Engineering, Protein Interaction Viewer, Molecular cloning & genetic recombination, Current Synthetic and Systems Biology, Genome Biology, Protein Journal.

Chromosomes andGene expression is the process by which information from a gene is used in the synthesis of a functional gene product. These products are usually proteins which functions as enzymes, hormones and receptors. Genes which do not code for proteins such as ribosomal RNA or transfer RNA code for functional RNA products. Gene expression is the process by which the genetic code the nucleotide sequence of a gene is used to direct protein synthesis and produce the structures of the cell. Genes that code for amino acid sequences are called as structural genes.

Related Journals of Chromosomes and Gene expression

Gene Technology, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics,Journal of Proteomics & Bioinformatics, Transcriptomics: Open Access, Critical Reviews in Eukaryotic Gene Expression, Gene Expression, Gene Expression Patterns, Brain research, Gene expression patterns, Critical Reviews in Eukaryotic Gene Expression.

Autoimmune disorders are caused when immune system of the body reacts, against our own body, thus leading to many autoimmune disorders. There are several autoummune disorders they are celiac diseases, diabetes mellitus, graves diseases.

Related Journals of Autoimmune Disorders

Journal of Autoimmune Diseases, Immunome Research, Journal of Clinical & Cellular Immunology, Journal of Autoimmune Diseases and Rheumatology, Open Journal of Rheumatology and autoimmune Diseases

DNA is a molecule that contains the instructions an organism needs to develop, live and reproduce. These instructions are found inside every cell, and are passed down from parents to their children. DNA is made up of molecules called nucleotides. Each nucleotide contains a phosphate group, a sugar group and a nitrogen base.

Related journals of Recombinant DNA

Down Syndrome & Chromosome Abnormalities, Fungal Genomics & Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Genetic Syndromes & Gene Therapy, Advances in DNA Sequence-Specific Agents, Artificial DNA: PNA and XNA, DNA Reporter.

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. it occurs as a result of altered gene or by set of genes. Abnormalities can also be small as single base mutation. They can also involve addition or subtraction of entire chromosome. There are four groups of genetic disorders like single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders.

Related Journals of Genetic Disorder Human Genetics and Embryology, Cloning and Transgenesis, Carcinogenesis and mutagenesis, Hereditary Genetics: Current Research, Journal of Genetic Mutation Disorders - Annex Publisher, Journal of Genetic Disorders and Genetic Report, Genes and Diseases - Journal - Elsevie, Genetic Disorders - Frontier, Source Journal of Genetic Disorders (SJGD) - Source Journals

One of a group of molecules similar in structure to a single strand of DNA. The function of RNA is to carry the information from DNA in the cell's nucleus into the body of the cell, to use the genetic code to assemble proteins, and to comprise part of the ribosomes that serve as the platform on which protein synthesis takes place.

Related journals of Recombinant DNA

Down Syndrome & Chromosome Abnormalities, Fungal Genomics & Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Genetic Syndromes & Gene Therapy, Advances in DNA Sequence-Specific Agents, Artificial DNA: PNA and XNA, DNA Reporter.

The passing on of traits from one generation to another generation. Human genetics is the study of inheritance in human beings. Human characteristics are inherited from parents to offspring in discrete unites called genes. Genes consist of specific information coded in the chromosome that consists of segments of chromosomes. Human genetics includes a variety of overlapping fields like classical, molecular, biochemical, population, developmental, clinical and cytogenetics.

Related Journals of Human Genetics

Human Genetics and Embryology, Journal of Cytology & Histology, Hereditary Genetics: Current Research, General Medicine: Open Access, Journal of Molecular and Genetic Medicine, Immunogenetics: Open Access, American, Journal of Human Genetics, Annals of Human Genetics, Annual Review of Genomics and Human Genetics, Current Protocols in Human Genetics, European Journal of Human Genetics, Human Genetics, Twin Research and Human Genetics, International Journal of Human Genetics, Journal of Human Genetics

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Genetics and Molecular Biology Research - iMedPub

Welcome

The Leeds Genetics Laboratory incorporates Molecular Genetics, Cytogenetics and a Molecular Oncology Diagnostic Facility. The laboratory is supported by the Translational Genomics Unit. The service is based at St Jamess Hospital and is part of the Leeds Teaching Hospitals NHS Trust.

The laboratory provides genetic analysis for inherited and acquired diseases for the population of Yorkshire. Services are also available nationally, as part of the UK Genetic Testing Network (UKGTN), and on an international basis.The Laboratory is accredited by UKAS for its established services.

This website is aimed primarily at health workers as an information resource.

Cytogenetics, Molecular Oncology and Whipples Referral Forms

Molecular Genetics Referral Forms

Letter to users re: changes to Whipple disease service

Letter to users re: change to testing strategy for recurrent miscarriage patients

Change to format of oncology reports:

Please note that from 01/01/18 solid tumour and molecular oncology results will be reported and integrated into cellular pathology reports. Separate reports from the Leeds Genetics Lab will no longer be issued.

Cytogenetic Enquiries:0113 2065419 leedsth-tr.Cytogenetics@nhs.net

Molecular Enquiries:0113 2065205 leedsth-tr.dna@nhs.net

Mon - Fri 8:30am - 5:00pm

For more information about schedules of our services covered under UKAS accreditation, please see

E Schedule 8105 (Cytogenetics); and E Schedule 8096 (Molecular Genetics)

For more information about the scope of our work please visit the British Society for Genetic Medicine website.

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Leeds Genetics Laboratory - Leeds Teaching Hospitals NHS Trust

Journal of Genetics and Molecular Biology is an international, Open Access, peer-reviewed journal that publishes high quality articles on the latest advancements and current research in the field of genetics and molecular biology. Journal of Genetics and Molecular Biology provides an Open access platform for young scholars, researchers, and students engaged in the active research in genetics and molecular biology fields.

Journal of Genetics and Molecular Biology will provide up to date information on recent advancements in genetics, molecular biology and its current & potential applications in genetic and molecular medicine (like information on diagnostic testing for the early detection of the diseases or recurrence, risk stratification, prognosis, prediction of treatment response, monitoring, and drug dosing), biotechnology, and other allied fields.

Aims and ScopeJournal of Genetics and Molecular Biology seeks to publish recent research outcomes from Genetics and Molecular Biology field. It accepts articles from different disciplines including but not limited to: Molecular genetics, Evoluationary genetics, Developmental genetics,Heredity genetics, Behavioural genetics, Genetic analysis, Gene regulation, Gene expression profiling, Genetic variation, Epigenetics, Gene therapies, Cellular genetics and molecular biology, Population genetics, Quantitative and computational genetics, Microbial genetics, Genetics in medical field, Signal transduction, Genome and systems biology, cancer genetics and molecular biology, Aging, Cell energetics, Drug metabolism, genetic disorders, Computational molecular biology, rDNA, CRISPR, and all other genetic and molecular biology techniques.

Besides these submissions on studies involving works on molecules of life (DNA, RNA, proteins, and other biomolecules) are also accepted.

Journal of Genetics and Molecular Biology accepts Research Articles, Review Articles, Mini-review, Case Reports, Opinion, Letters to the Editor, Editorials, Rapid and Short Communications, and Commentary on all aspects of genetics and molecular biology.

All submitted articles are subjected to thorough peer-review prior to their publication to maintain quality and significance of the journal. The published articles are made freely and permanently accessible online immediately upon publication, thus improving the citations for the authors in attaining impressive impact factor.

Journal of Genetics and Molecular Biology welcomes submissions via online submission system http://www.editorialmanager.com/alliedjournals or via email to the Editorial Office at[emailprotected] or [emailprotected]

Individuals interested in becoming Editorial Board members or Reviewers should contact the editorial office at:[emailprotected]

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Genetics and Molecular Biology | Peer Reviewed Journal

The Molecular Genetics and GenomicsProgram in the Wake Forest School of Medicine is an interdisciplinary research and PhD training program composed of a diverse group of investigators employing molecular and genetic approaches to biomedical research.

The Program includes molecular biologists from each of the basicscience departments of the School of Medicine as well as clinical facultyinvolved in laboratory research. Participating investigators include facultyfrom the departments of Biochemistry, Cancer Biology, Neurobiology and Anatomy,Medicine, Microbiology and Immunology, Pathology, Pediatrics, Physiology andPharmacology, and Surgery. Many program faculty are also members of theComprehensive Cancer Center of Wake Forest University.

Part of the first-year Molecular & Cellular Biosciences (MCB)track, the objective of the PhD training program is to provide aninterdisciplinary curriculum that emphasizes the detailed analysis of fundamentalbiological processes using the tools of molecular biology and genetics.Individualized programs of study are designed to train students for independentcareers in research and teaching. The first year MCB curriculum provides broadexposure to the fundamentals of molecular and cellular biology, biochemistry,and microbiology.

After the completion of the first year in the MCB track, studentsthat select a Molecular Genetics & Genomics research advisor beginspecialization in the research area of that laboratory. Areas of activeinvestigation include the genetics of complex diseases, genetic epidemiology,epigenetics, and bioinformatics.

Click here to obtain information on the APPLICATION PROCESS for the Molecular Genetics and GenomicsProgram.

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Molecular Genetics and Genomics Program - Wake Forest ...

Sickle Cell disease has long been referred to as a black persons disease. But that is not the reality. According to the National Institutes of Health, There are also many people with this disease who come from Hispanic, southern European, Middle Eastern or Asian Indian backgrounds.

The need to educate the public to the dangers of this disease and how pervasive it has led to the creation a two-day local event that will be held Sept. 22-23 as part of National Sickle Cell Awareness Month.

Our sorority, Kappa Alpha Kappa (Kappa Pi Omega Chapter), and the Community Awareness Foundation have read a lot of information about this disease, said Linda Garrett, president if the Community Awareness Foundation. We have realized, especially in the medical community, there is a disconnect. This has always been viewed as a black persons disease. Predominantly a black persons disease, yes, but any human being can get this disease.

The disease, according to NIH, is not contagious. A person cannot catch it, like a cold or infection, from someone else. It is an inherited disease, which means that the disease is passed by genes from parents to their children.

Sickle cell disease is caused by a group of inherited red blood cell disorders causing abnormal hemoglobin. The importance of hemoglobin is that it carries oxygen to all parts of the body. The most common and many times the most severe form of sickle cell disease is sickle cell anemia.

Garrett notes the concern about this disease grew from early community conversations.

The discussions began on a knowledge level, Garrett said as she began to give the background to what has grown into a two-day awareness and fundraising campaign. We started educating the community. In 2007 we forged a partnership with Southeast Alabama Medical Center, which is how we started the lecture series. We scheduled professionals (in the field) to talk about the disease.

The invited speaker for this years event is Tim M. Townes, PhD, from the Department of Biochemistry and Molecular Genetics at the University of Alabama at Birmingham. His lab research focus is the Development Regulation of Gene Express.

From the lecture series we moved to making donations toward helping the clients in the area who have sickle cell disease, Garrett continued. We work with the Southeast Alabama Sickle Cell Association, which covers 10 Wiregrass counties (Barbour, Bullock, Dale, Geneva, Henry, Houston, Lee, Macon, Pike and Russell). We help raise funds for things like client medications, trips to the clinic at the University of South Alabama. The state has two comprehensive health centers, South Alabama, which covers our area, and UAB. Clients can go to Birmingham, if they choose to do so. Research in this disease is being done at both. Weve involved professionals from both facilities.

While a lecture series educates a portion of the community, Garrett says more was needed to broaden the scope of community awareness of the disease.

In 2011, because we wanted to educate the community, we started the walk-a-thon, she said. We want to raise the publics awareness of this disease and to also raise some funds to go to SEASCA. They do a lot for their clients. They handle personal issues for their clients.

Garrett believes public awareness of the dangers of sickle cell disease is vital.

This is a disease that affects children and adults, she said. Today, every (newborn) baby is pre-screened for sickle cell disease. The centers (USA, UAB) are notified if a trait for this disease is found. The families are also notified. The childs name is placed in the network, which will allow the parents to receive guidance and treatment (for their children).

This will mark the seventh year for the Sickle Cell Walk-a-Thon, which will be held Saturday, Sept. 23, at the Westgate Park Walking Trail. Registration for the event will be held from 7:15-8:15 a.m. Warm-up will begin at8:15, followed by a walk on the trail from 8:30-10:30 a.m.

Weve gotten really good participation, Garrett said. It continues to grow every year. Our efforts to raise awareness and to impact the community in a positive way have been successful. Public awareness is important. Its almost like this has been a silent disease.

Garrett says there are other avenues that need to be pursued to continue the education and awareness efforts.

We really need to work on our schools understanding that these children (afflicted with sickle cell disease) need nurturing to get them through the crises (caused by the disease), Garrett said. We hope to get our school nurses more involved.

Its only fitting, Garrett notes, that the Alpha Kappa Alpha Sorority and its nonprofit arm, the Community Advancement Foundation, would take a lead role in this effort.

This is an opportunity to have compassion for fellow humans, Garrett said. The Alpha Kappa Alpha mantra is Service to all mankind. The fact that this is a service opportunity that positively impacts the lives of a segment of our population that suffers is awesome. As you can tell, Im very passionate about this. I have a niece who has sickle cell. Shes in law school now. It requires a very supportive network for a child to manage this illness and lifes goals at the same time. Not all children with this disease have that support. Were trying to open doors to level the playing field.

The two-day Sickle Cell Awareness Campaign is sponsored by the Community Advancement Foundation, Alpha Kappa Alpha Sorority Inc. (Kappa Pi Omega Chapter, Life South Community Blood Centers, Southeast Alabama Medical Center, Ta-Seti Shriners Temple #253 and the Southeast Alabama Sickle Cell Association Inc.

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Getting the word out: Seminar, walk put spotlight on Sickle Cell disease - Dothan Eagle