Clinical and research tests for C0339573 - 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
OPTN - 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 Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Invitae United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Glaucoma Panel Invitae United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glaucoma 1, open angle, E, 137760, Autosomal dominant (OPTN 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glaucoma Panel PreventionGenetics, part of Exact Sciences United States	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
OPTN Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	C Sequence analysis of the entire coding region
Glaucoma panel. 18-gene NGS panel. Genologica Medica Spain	44	18	C Sequence analysis of the entire coding region
Glaucoma, open angle type 1E Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
OPTN Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Reference Laboratory Genetics Spain	30	17	C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	C Sequence analysis of the entire coding region
GLAUCOMA, OPEN ANGLE Laboratorio de Genetica Clinica SL Spain	5	5	C Sequence analysis of the entire coding region
Primary Open-Angle Glaucoma Type 1E, Sequencing OPTN Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Athena Diagnostics Inc United States	24	15	C Sequence analysis of the entire coding region
Primary congenital glaucoma 3 Bioarray 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.