Clinical and research tests for C1850938 - 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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis 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
Sorsby fundus dystrophy, 136900, Autosomal dominant; SFD (Sorsby`s fundus dystrophy) (TIMP3 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
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
Sorsby Fundus Dystrophy via the TIMP3 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
TIMP3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Sorsby fundus dystrophy (sequence analysis of TIMP3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain	50	26	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	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
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	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
SORSBY'S PSEUDOINFLAMMATORY FUNDUS DYSTROPHY Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
SYN3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sorsby's fundus dystrophy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	379	287	C Sequence analysis of the entire coding region
Stargardt Panel Molecular Vision Laboratory United States	28	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.