Clinical and research tests for 1337 - Genetic Testing Registry (GTR) - NCBI

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

<< First < Prev

Page 2 of 4

Results: 21 to 40 of 66

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	43	C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atrial fibrillation NGS test HNL Genomics Connective Tissue Gene Tests United States	22	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block NGS test HNL Genomics Connective Tissue Gene Tests United States	9	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Atrioventricular block Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	9	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atrial fibrillation Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	22	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 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 - Axonal Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Charcot-Marie-Tooth Disease via the COX6A1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	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
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	1	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 4

Results: 21 to 40 of 66

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.