Clinical and research tests for 610419 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Deafness, autosomal recessive 68, 610419, Autosomal recessive; DFNB68 (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (S1PR2 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
Centronuclear visceral (sequence analysis of ACTG2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FoundationOne® Heme Foundation Medicine, Inc. United States	2	405	D Deletion/duplication analysis R RNA analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States	1	200	C Sequence analysis of the entire coding region
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hematologic Cancer Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	147	R RNA analysis
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	361	224	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
Deafness or hypoacusis panel_v.2.0 CGC Genetics Unilabs Portugal	1	272	C Sequence analysis of the entire coding region
Inherited Loss of Hearing Panel Dhiti Omics Technologies Private Ltd India	8	179	C Sequence analysis of the entire coding region
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain	146	94	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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
Comprehensive AUDIOME Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Deafness, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	75	75	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
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	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.