Clinical and research tests for C3808786 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NBIA Panel Genetic Services Laboratory University of Chicago United States	9	13	D Deletion/duplication analysis 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
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
Albinism, oculocutaneous, type VII, 615179, Autosomal recessive; OCA7 (Oculocutaneous albinism type 7) (C10orf11 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
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
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oculocutaneous Albinism Type 7 (OCAVII) via the LRMDA (C10orf11) 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
Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Early Infantile Epileptic Encephalopathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	114	86	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 , 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
Single gene testing C10orf11 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing NBIA Testing Center Oregon Health & Science University United States	5	19	C Sequence analysis of the entire coding region
Albinism Panel CeGaT GmbH Germany	9	9	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel CeGaT GmbH Germany	3	13	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.