Clinical and research tests for C4225297 - 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
ATF6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis 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 Achromatopsia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	7	8	D Deletion/duplication analysis
Achromatopsia 7, 616517, Autosomal recessive; ACHM7 (Achromatopsia) (ATF6 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
Achromatopsia (ACHM) via the ATF6 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
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
Achromatopsia (ACHM) Panel PreventionGenetics, part of Exact Sciences United States	7	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Achromatopsia panel. 8-gene NGS panel. Genologica Medica Spain	8	8	C Sequence analysis of the entire coding region
Achromatopsia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Cone-Rod Dystrophy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	45	37	C Sequence analysis of the entire coding region
ACHROMATOPSIA Laboratorio de Genetica Clinica SL Spain	6	6	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Achromatopsia Asper Biogene Asper Biogene LLC Estonia	6	6	C Sequence analysis of the entire coding region
Achromatopsia panel Molecular Vision Laboratory United States	8	6	C Sequence analysis of the entire coding region
Single gene testing ATF6 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Cone Rod Dystrophy panel Molecular Vision Laboratory United States	51	33	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
Achromatopsia Panel CeGaT GmbH Germany	10	6	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 21

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.