Clinical and research tests for C0342683 - Genetic Testing Registry (GTR)

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TYRP1 - 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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Oculocutaneous Albinism Panel Invitae United States	28	22	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypopigmentation Panel PreventionGenetics United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oculocutaneous Albinism (OCA) Panel PreventionGenetics United States	18	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
OCULOCUTANEOUS ALBINISM (OCA) Laboratorio de Genetica Clinica SL Spain	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TYRP1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Albinism NGS Panel Fulgent Genetics United States	52	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 15 of 15

Results: 1 to 15 of 15