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

Results: 1 to 13 of 13

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Custom Panel (Audiology/Hearing Loss) PreventionGenetics, part of Exact Sciences 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, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Coagulation Factor Deficiency Panel PreventionGenetics, part of Exact Sciences United States	21	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
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
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
Invitae Elevated Citrulline (Citrullinemia) Panel Invitae United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Ciliopathies Panel Invitae United States	144	102	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing impairment (inherited causes) Molecular Diagnosis Centre National University Hospital Singapore	3	4	D Deletion/duplication analysis T Targeted variant analysis

Results: 1 to 13 of 13

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.

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Results: 1 to 13 of 13

Results: 1 to 13 of 13