Clinical and research tests for C1847836 - 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
SLC45A2 - 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
Invitae Oculocutaneous Albinism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	28	22	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	83	46	D Deletion/duplication analysis
Albinism, oculocutaneous, type IV, 606574; OCA4 (Oculocutaneous albinism type 4) (SLC45A2 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 Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 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 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
SLC45A2 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	C Sequence analysis of the entire coding region
SLC45A2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
SLC45A2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	2	1	T Targeted variant analysis
SLC45A2 Sequence Analysis Baylor Genetics United States	2	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
Oculocutaneous Albinism Type 4: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	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
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Melanoma Comprehensive Panel Fulgent Genetics United States	55	13	D Deletion/duplication analysis 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.