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
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for MelanomaNext® (+RNAinsight®) Ambry Genetics United States	40	3	D Deletion/duplication analysis R RNA 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
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
Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MelanomaNext® Ambry Genetics United States	40	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext-Expanded® Ambry Genetics United States	122	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oculocutaneous Albinism (OCA) Panel PreventionGenetics, part of Exact Sciences United States	18	15	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

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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.