Clinical and research tests for C0221055 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperkalemic Periodic Paralysis Type 1 Molecular Genetics Laboratory London Health Sciences Centre Canada	3	1	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SCN4A - 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
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States	59	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Paramyotonia congenita, 168300, Autosomal dominant; PMC (Paramyotonia congenita of Von Eulenburg) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Paramyotonia congenita, 168300, Autosomal dominant; PMC (Paramyotonia congenita of Von Eulenburg) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Periodic Paralysis Panel Invitae United States	18	6	D Deletion/duplication analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Myotonia and Paramyotonia Congenita Panel Invitae United States	8	2	D Deletion/duplication analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SCN4A MLPA Institute for Human Genetics University Medical Center Freiburg Germany	5	1	D Deletion/duplication analysis
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paramyotonia Congenita (SCN4A Single Gene Test) Fulgent Genetics United States	6	1	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
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

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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.