Clinical and research tests for 600496 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MODY, type III, 600496, Autosomal dominant; MODY3 (MODY) (HNF1A 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
MODY, type III, 600496, Autosomal dominant; MODY3 (MODY) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Maturity-onset Diabetes of the Young Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNF1A Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Diabetes Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	17	41	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
HNF1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Invitae Hypoglycemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY and Neonatal Diabetes Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	23	C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
Maturity-Onset Diabetes of the Young (MODY) Panel Ambry Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hyperinsulinism Panel PreventionGenetics, part of Exact Sciences United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity Onset Diabetes of the Young (MODY) Panel PreventionGenetics, part of Exact Sciences United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.