Clinical and research tests for C0043207 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Wolfram syndrome panel Genetic Services Laboratory University of Chicago United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	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
Wolfram Syndrome Panel PreventionGenetics United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WFS1-Related Disorders via the WFS1 Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	75	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	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
Neuro-Ophthalmic Disorders NGS Panel Fulgent Genetics United States	52	26	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
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WFS1-Related Disorders: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	1	C Sequence analysis of the entire coding region
WFS1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	52	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC9B1 Single Gene Fulgent Genetics United States	1	1	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.