Clinical and research tests for C0236038 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States	1	200	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
Comprehensive DFNB1 and STRC Panel Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	1	4	C Sequence analysis of the entire coding region
Comprehensive STRC / Deafness and Male Infertility Syndrome Test Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Panel (Audiology/Hearing Loss) PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Usher Panel Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	16	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Coagulation Factor Deficiency Panel PreventionGenetics United States	21	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SLC26A4 (PDS) Gene Sequencing Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	3	1	C Sequence analysis of the entire coding region
OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	23	109	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	6	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
GJB2/GJB6 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	5	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GUSHER SYNDROME (X-LINKED) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DFNB31 single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Elevated Citrulline (Citrullinemia) Panel Invitae United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	108	91	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.