Clinical and research tests for C3280443 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	100	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CAV3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	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
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
Myopathy, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (CAV3 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
Myopathy, distal, Tateyama type, 614321, Autosomal dominant; MPDT (Rippling muscle disease) (CAV3 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LongQTNext™ Ambry Genetics United States	33	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RhythmNext® Ambry Genetics United States	91	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	189	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy Exome Panel Northwest Clinical Genomics Laboratory University of Washington United States	32	75	C Sequence analysis of the entire coding region
Distal Myopathy Panel PreventionGenetics United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CAV3 gene sequencing Health in Code Spain	5	1	C Sequence analysis of the entire coding region
Inherited Cadiac Disorders Panel Dhiti Omics Technologies Private Ltd India	60	33	C Sequence analysis of the entire coding region
Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel. Genologica Medica Spain	96	42	C Sequence analysis of the entire coding region
Arrhythmia panel. NGS panel of 55 genes. Genologica Medica Spain	128	55	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.