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
SCN4A Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	4	1	C Sequence analysis of the entire coding region
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
Paramyotonia Congenita Medical Genetics Laboratory Eulji University College of Medicine South Korea	1	1	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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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 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 United States	58	31	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) (SCN4A 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
Paramyotonia congenita, 168300, Autosomal dominant; PMC (Paramyotonia congenita of Von Eulenburg) (SCN4A 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene PreventionGenetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A. Genologica Medica Spain	13	4	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Congenital myasthenic syndromes panel. 18-gene NGS panel. Genologica Medica Spain	38	18	C Sequence analysis of the entire coding region
Central hypoventilation and apnea panel. NGS panel of 15 genes. Genologica Medica Spain	37	15	C Sequence analysis of the entire coding region
SCN4A Full Gene Sequencing Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	1	C Sequence analysis of the entire coding region

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