Clinical and research tests for C1854023 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SIGMAR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 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
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
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
Fundamental Panel (CF and SMA) Myriad Genetics, Inc. United States	6	2	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
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
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	C Sequence analysis of the entire coding region
Spinal muscular atrophy, distal, autosomal recessive, 2: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Athena Diagnostics United States	24	15	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis Advanced Evaluation Athena Diagnostics United States	19	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontotemporal Dementia Asper Biogene Asper Biogene LLC Estonia	29	20	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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