Clinical and research tests for C0687120 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cystic Kidney Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	16	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Nephronophthisis Panel Genetic Services Laboratory University of Chicago United States	10	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Cystic and Glomerular Disorders Panel Genetic Services Laboratory University of Chicago United States	17	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy & Situs Inversus Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	7	36	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephronophthisis Institute of Human Genetics Cologne University Germany	5	4	D Deletion/duplication analysis S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
NEPHRONOPHTHISIS TYPE 8 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
NEPHRONOPHTHISIS TYPE 6 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
NEPHRONOPHTHISIS TYPE 5 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Hereditary kidney disorders - different panels Institute of Human Genetics Cologne University Germany	32	481	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephronophthisis Panel Blueprint Genetics Finland	1	20	D Deletion/duplication analysis 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.