Clinical and research tests for C2749982 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Surgical Risk Screen Invitae 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 Invitae United States	202	128	D Deletion/duplication analysis
Invitae Malignant Hyperthermia Susceptibility Panel Invitae United States	8	3	D Deletion/duplication analysis
Thyrotoxic periodic paralysis, susceptibility to, 1, 188580, Isolated cases; TTPP1 (Thyrotoxic periodic paralysis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Periodic Paralysis Panel Invitae United States	18	6	D Deletion/duplication analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
CACNA1S MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
Myotonia Panel GeneDx United States	12	10	D Deletion/duplication analysis E Sequence analysis of select exons
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Malignant Hyperthermia Susceptibility NGS Panel Fulgent Genetics United States	6	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States	177	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypokalemic and Hyperkalemic Periodic Paralysis NGS Panel Fulgent Genetics United States	14	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nondystrophic Myotonia NGS Panel Fulgent Genetics United States	35	10	D Deletion/duplication analysis 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.