Clinical and research tests for C1856718 - 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
PLA2G5 - 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
[Fleck retina, familial benign], 228980, Autosomal recessive (Familial benign flecked retina) (PLA2G5 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
Benign Flecked Retina Disorder via the PLA2G5 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Flecked Retina Disorder Panel PreventionGenetics, part of Exact Sciences United States	11	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinitis Pigmentosa Panel PreventionGenetics, part of Exact Sciences United States	91	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autosomal Recessive Retinitis Pigmentosa (RP) Panel PreventionGenetics, part of Exact Sciences United States	62	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fleck retina, familial benign (sequence analysis of PLA2G5 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Retinitis pigmentosa panel Genologica Medica Spain	164	108	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
Mottled Retinal Disorders Panel. 12-gene NGS panel. Genologica Medica Spain	25	12	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
Flecked Retina NGS Panel Fulgent Genetics United States	28	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing PLA2G5 CeGaT GmbH Germany	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
PLA2G5 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.