Clinical and research tests for C0268494 - Genetic Testing Registry (GTR)

Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
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 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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 (OCA) Laboratorio de Genetica Clinica SL Spain	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Oculocutaneous albinism type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Albinism Panel CeGaT GmbH Germany	10	8	C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Molecular Vision Laboratory United States	45	29	C Sequence analysis of the entire coding region
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet Denmark	7	6	C Sequence analysis of the entire coding region
Oculocutaneous Albinism Asper Biogene Asper Biogene LLC Estonia	27	22	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Oculocutaneous albinism type 1 Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet Denmark	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.

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Results: 1 to 18 of 18

Results: 1 to 18 of 18