Clinical and research tests for 608548 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypochondroplasia (sequence analysis of exons 3, 7, 8, 9, 12 and 14 of FGFR3 gene) CGC Genetics Unilabs Portugal	1	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
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	36	D Deletion/duplication analysis
Macular degeneration, age-related, 1, 603075, Autosomal dominant; ARMD1 (HMCN1 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	35	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal	1	307	C Sequence analysis of the entire coding region
Macular Degeneration Panel CGC Genetics Unilabs Portugal	1	20	C Sequence analysis of the entire coding region
Hereditary Retinopathy Panel Mendelics Brazil	1	321	C Sequence analysis of the entire coding region
STARGARDT DISEASE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	49	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Age-related macular degeneration (AMD) Bioarray Spain	1	15	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Macular degeneration, age-related: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	16	17	C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macular Degeneration NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	26	24	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
HMCN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	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.