Clinical and research tests for C1866077 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Surgical Risk Screen Labcorp Genetics (formerly Invitae) LabCorp United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CACNA1S - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
Invitae Malignant Hyperthermia Susceptibility Panel Labcorp Genetics (formerly Invitae) LabCorp United States	8	3	D Deletion/duplication analysis
Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (CACNA1S 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 University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Periodic Paralysis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	18	6	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Malignant Hyperthermia Susceptibility Panel PreventionGenetics, part of Exact Sciences United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CACNA1S MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A. Genologica Medica Spain	13	4	C Sequence analysis of the entire coding region
Preventive 59 Genologica Medica Spain	172	59	C Sequence analysis of the entire coding region

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