Clinical and research tests for C4551504 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TYR gene sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	2	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
TYR - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TYR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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 IA, 203100, Autosomal recessive; OCA1A (Oculocutaneous albinism type 1) (TYR gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Albinism, oculocutaneous, type IA, 203100, Autosomal recessive; OCA1A (Oculocutaneous albinism type 1) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	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
TYR mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oculocutaneous Albinism, Type 1 - TYR Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	3	1	C Sequence analysis of the entire coding region
TYR Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Oculocutaneous albinism: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	6	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	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
Oculocutaneous Albinism Type 1: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	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
Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	17	18	C Sequence analysis of the entire coding region
Oculotaneous Albinism Type 1A , Sequencing TYR Gene Reference Laboratory Genetics Spain	1	1	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.