Clinical and research tests for SIGMAR1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal muscular atrophy, distal, autosomal recessive, 2, 605726, Autosomal recessive; DSMA2 (Distal hereditary motor neuropathy, Jerash type) (SIGMAR1 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
Spinal muscular atrophy, distal, autosomal recessive, 2, 605726, Autosomal recessive; DSMA2 (Distal hereditary motor neuropathy, Jerash type) (SIGMAR1 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
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Distal hereditary motor neuropathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal hereditary motor neuropathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Motor Neuropathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	30	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	98	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis/motor neuron disease (WES based NGS panel of 30 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	30	C Sequence analysis of the entire coding region
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	C Sequence analysis of the entire coding region
Juvenile amyotrophic lateral sclerosis - Neuropathy, motor, distal, inherited, Jerash-like (deletions/duplications in SIGMAR1 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil	1	288	C Sequence analysis of the entire coding region
Neuropathy Panel Mendelics Brazil	1	104	C Sequence analysis of the entire coding region
Spastic Paraplegia and Amyotrophic Lateral Sclerosis Panel Mendelics Brazil	2	60	C Sequence analysis of the entire coding region

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