Clinical and research tests for 164015 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MATR3 Gene Amyotrophic lateral sclerosis type 21 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
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FTD and ALS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Muscular Dystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor Neuron Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MATR3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
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
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 Myopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	45	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	32	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis 21, 606070, Autosomal dominant; ALS21 (Amyotrophic lateral sclerosis) (MATR3 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

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.