Clinical and research tests for 610897 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 (sequence analysis of TBK1gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CHMP4B - 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 31, multiple types, 605387; CTRCT31 (Early-onset non-syndromic cataract) (CHMP4B 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
Cataract Amplexa Genetics Amplexa Genetics A/S Denmark	1	47	S Mutation scanning of the entire coding region
Congenital Cataracts via the CHMP4B 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 Panel CGC Genetics Unilabs Portugal	1	118	C Sequence analysis of the entire coding region
CONGENITAL CATARACTS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	120	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	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
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Congenital Cataract Gene Sequencing Panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	49	E Sequence analysis of select exons
Cataract Panel GeneDx United States	1	85	D Deletion/duplication analysis 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

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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.