Clinical and research tests for 609797 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 2 of 5

Results: 21 to 40 of 91

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290, Autosomal dominant; SMALED2 (Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures) (BICD2 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, lower extremity-predominant, 2, AD, 615290, Autosomal dominant; SMALED2 (Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures) (BICD2 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 via the BICD2 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
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
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	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	82	71	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
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	58	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	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
Neuromuscular Disorders Panel Baylor Genetics United States	1	142	C Sequence analysis of the entire coding region
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
BICD2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal	17	248	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 5

Results: 21 to 40 of 91

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.