Clinical and research tests for C2745945 - 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
BEST1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	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
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (BEST1 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
Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication 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
BEST1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	C Sequence analysis of the entire coding region
BEST1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	5	1	T Targeted variant analysis
BEST1 Sequence Analysis Baylor Genetics United States	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis
BEST1 Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis
BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BEST1 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	4	1	D Deletion/duplication analysis
Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain	50	26	C Sequence analysis of the entire coding region
Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain	65	41	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
Vitreoretinopathy panel. 23-gene NGS panel. Genologica Medica Spain	63	23	C Sequence analysis of the entire coding region
BEST1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Macular dystrophy, vitelliform: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	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.