Clinical and research tests for C1862511 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Arrythmogenic Cardiomyopathy Panel Health in Code Spain	53	17	C Sequence analysis of the entire coding region
CentoCardio Panel Centogene US, LLC - The Rare Disease Company United States	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene US, LLC - The Rare Disease Company United States	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene US, LLC - The Rare Disease Company United States	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene US, LLC - The Rare Disease Company United States	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TGFB3 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TGFB3 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	342	156	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arrhythmogenic right ventricular dysplasia 1, 107970, Autosomal dominant; ARVD1 (Uhl anomaly) (TGFB3 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics United States	164	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics United States	150	88	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	47	C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.