Clinical and research tests for C1860405 - 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
KCNJ13 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Snowflake vitreoretinal degeneration, 193230, Autosomal dominant (Snowflake vitreoretinal degeneration) (KCNJ13 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 Invitae 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
Vitreoretinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Vitreoretinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitreoretinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States	26	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leber Congential Amaurosis Panel (MitomeNGS) Baylor Genetics United States	32	19	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
KCNJ13 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Leber's congenital amaurosis panel. NGS panel of 26 genes. Genologica Medica Spain	40	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
Vitreoretinopathy panel. 23-gene NGS panel. Genologica Medica Spain	63	23	C Sequence analysis of the entire coding region
Vitreoretinopathy Asper Biogene Asper Biogene LLC Estonia	55	20	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
Vitreoretinopathy panel Molecular Vision Laboratory United States	36	19	C Sequence analysis of the entire coding region
Leber congenital amaurosis panel Molecular Vision Laboratory United States	43	23	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.