Clinical and research tests for CN028925 - 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
Waardenburg syndrome/ocular albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome/albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (TYR 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
Waardenburg syndrome/albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome/ocular albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (MITF gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome/ocular albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome/albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (TYR gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome/albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome/ocular albinism, digenic, 103470, Autosomal dominant (Ocular albinism with congenital sensorineural deafness) (MITF 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
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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oculocutaneous Albinism and Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	24	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TYR Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
TYR Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	4	1	T Targeted variant analysis
TYR Sequence Analysis Baylor Genetics United States	4	1	C Sequence analysis of the entire coding region
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome Type IIA via the MITF Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OncoGeneDx Custom Panel GeneDx United States	103	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	84	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

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