Clinical and research tests for 162230 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NEFH Gene Amyotrophic lateral sclerosis, susceptibility to 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
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
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States	2	87	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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis 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
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant; ALS1 (Amyotrophic lateral sclerosis) (NEFH 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
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924, Autosomal dominant; CMT2CC (Amyotrophic lateral sclerosis) (NEFH 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
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
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
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Neuropathy Panel Mendelics Brazil	1	104	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.