Clinical and research tests for 50717 - Genetic Testing Registry (GTR) - NCBI

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

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 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
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
Giant axonal neuropathy 2, autosomal dominant, 610100, Autosomal dominant; GAN2 (Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons) (DCAF8 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
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
GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	98	C Sequence analysis of the entire coding region
Arrhythmia Panel Mendelics Brazil	1	311	C Sequence analysis of the entire coding region
Cardiomyopathy Panel Mendelics Brazil	1	311	C Sequence analysis of the entire coding region
Neuropathy Panel Mendelics Brazil	1	104	C Sequence analysis of the entire coding region
CHARCOT-MARIE-TOOTH EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	151	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Giant Axonal Neuropathy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Neuropathy Panel Blueprint Genetics Finland	1	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCAF8 Single Gene Fulgent Genetics United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth and Sensory Neuropathies Panel CeGaT GmbH Germany	63	84	C Sequence analysis of the entire coding region
Neuropathy MGZ Medical Genetics Center Germany	7	122	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.