Clinical and research tests for 611383 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Usher syndrome, type 2D, 611383, Autosomal recessive; USH2D (Usher syndrome) (WHRN 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
Koolen-De Vries syndrome (detection of 17q21.31 region deletion by MLPA) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Otogenetics Usher Multi-Gene NGS Panel Otogenetics United States	10	10	E Sequence analysis of select exons
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	122	128	E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
WHRN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis 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
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication analysis
Invitae Usher Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	32	17	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
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	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	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Usher Syndrome Panel PreventionGenetics, part of Exact Sciences United States	11	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
DFNB31 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
DFNB31 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
DFNB31 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
DFNB31 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.