Clinical and research tests for SPTLC1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SPTLC1 Gene HSAN1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sensory Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
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 Hospital United States	480	254	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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
Invitae Hereditary Sensory and Autonomic Neuropathy Panel Invitae United States	25	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	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 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region

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