Clinical and research tests for TIMP3 - Genetic Testing Registry (GTR)

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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
Stargardt Disease and Macular Dystrophies Amplexa Genetics Amplexa Genetics A/S Denmark	2	23	S Mutation scanning 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
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
TIMP3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Retinitis Pigmentosa Panel CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Neuro-Ophthalmology Panel CGC Genetics Unilabs Portugal	1	223	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
Stargardt disease and macular dystrophy (WES based NGS panel of 15 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	15	C Sequence analysis of the entire coding region
Sorsby fundus dystrophy (deletion/duplication analysis of TIMP3 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Sorsby fundus dystrophy (sequence analysis of TIMP3 gene) CGC Genetics Unilabs Portugal	1	1	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

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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.

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Results: 1 to 20 of 38

Results: 1 to 20 of 38