Clinical and research tests for 7415 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 60 of 155

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Paget disease of bone and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paget disease of bone and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Paget disease of bone and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	7	D Deletion/duplication analysis 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
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
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 Frontotemporal Dementia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	29	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	376	266	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	209	145	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication 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
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics, part of Exact Sciences United States	34	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Panel PreventionGenetics, part of Exact Sciences United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Valosin-Containing Protein-Related Disorders via the VCP Gene PreventionGenetics, part of Exact Sciences United States	2	1	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

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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.