Clinical and research tests for 617612 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Joubert/Meckel-Gruber syndrome Panel Genetic Services Laboratory University of Chicago United States	34	41	D Deletion/duplication analysis 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
ARMC9 - 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
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region 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
Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Joubert syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	37	C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliopathy Panel PreventionGenetics, part of Exact Sciences United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert and Meckel-Gruber Syndromes Panel PreventionGenetics, part of Exact Sciences United States	43	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Epilepsy Panel CGC Genetics Unilabs Portugal	1	832	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	C Sequence analysis of the entire coding region
Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	35	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.