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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
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
Albinism, oculocutaneous, type III, 203290, Autosomal recessive; OCA3 (Oculocutaneous albinism type 3) (TYRP1 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
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, part of Exact Sciences United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 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
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
TYRP1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
TYRP1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	2	1	T Targeted variant analysis
TYRP1 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Oculocutaneous albinism: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	6	C Sequence analysis of the entire coding region
Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain	7	7	C Sequence analysis of the entire coding region
Albinism , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	13	12	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.