Clinical and research tests for C0020071 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Charcot Marie Tooth Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	46	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuropathy, hereditary sensory and autonomic, type IA, 162400, Autosomal dominant; HSAN1A (Hereditary sensory and autonomic neuropathy type 1) (SPTLC1 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
Neuropathy, hereditary sensory and autonomic, type IA, 162400, Autosomal dominant; HSAN1A (Hereditary sensory and autonomic neuropathy type 1) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Hereditary Sensory Neuropathy Type IA via the SPTLC1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SPTLC1 Molecular Genetics Laboratory London Health Sciences Centre Canada	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Sensory and Autonomic Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	20	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth (CMT) - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	91	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SPTLC1 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	C Sequence analysis of the entire coding region
Hereditary Neuropathy Sequencing & Del/Dup Panel GeneDx United States	15	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region
Hereditary Sensory Neuropathy Type IA: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Hereditary sensory and autonomic neuropathy type 1A Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	34	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing SPTLC1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth and Sensory Neuropathies Panel CeGaT GmbH Germany	63	84	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Asper Biogene Asper Biogene LLC Estonia	89	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPTLC1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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