Clinical and research tests for 5346 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy, familial partial, type 4, 613877, Autosomal dominant; FPLD4 (PLIN1-related familial partial lipodystrophy) (PLIN1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Partial Lipodystrophy (FPLD) Panel PreventionGenetics, part of Exact Sciences United States	29	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Monogenic Diabetes Panel Genetic Services Laboratory University of Chicago United States	14	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy Panel Genetic Services Laboratory University of Chicago United States	17	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
Diabetes panel_v.2.0 CGC Genetics Unilabs Portugal	1	130	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
FAMILIAL AND CONGENITAL LIPODYSTROPHY SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	23	E Sequence analysis of select exons
Monogenic Diabetes and MODY Panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	44	C Sequence analysis of the entire coding region
Atypical Diabetes and ER Stress Disorders Gene Panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	54	C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Congenital and familial lipodystrophy panel. NGS panel of 11 genes. Genologica Medica Spain	29	11	C Sequence analysis of the entire coding region
Lipodystrophy, familial partial, type 4 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.