Clinical and research tests for C1849409 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	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
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Knobloch syndrome, type 1, 267750, Autosomal recessive; KNO1 (Knobloch syndrome) (COL18A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Knobloch syndrome, type 1, 267750, Autosomal recessive; KNO1 (Knobloch syndrome) (COL18A1 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
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Knobloch syndrome 1 Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Knobloch syndrome 1 Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Knobloch syndrome 1 NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
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
Knobloch Syndrome, Type I via the COL18A1 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
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	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
Ectopia lentis panel. 14-gene NGS panel. Genologica Medica Spain	26	14	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.