Clinical and research tests for C1858679 - 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
CRYAA - 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
Cataract 9, multiple types, 604219, Autosomal dominant; CTRCT9 (Katarakt-mikrokornea sendromu) (CRYAA 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
Cataract 9, Multiple Types (CTRCT9) via the CRYAA 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
Congenital Cataracts Panel PreventionGenetics, part of Exact Sciences United States	44	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract 9, multiple types (sequence analysis of CRYAA gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	C Sequence analysis of the entire coding region
Cataract: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	C Sequence analysis of the entire coding region
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Reference Laboratory Genetics Spain	40	40	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
Cataract Asper Biogene Asper Biogene LLC Estonia	45	44	C Sequence analysis of the entire coding region
CRYAA Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cataracts Panel Invitae United States	46	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cataract Panel CeGaT GmbH Germany	24	41	C Sequence analysis of the entire coding region
CRYAA Single Gene Fulgent Genetics United States	1	1	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.