Clinical and research tests for 26353 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	88	134	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HSPB8 Gene CMT2L 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
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 Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	8	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	46	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSPB8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis 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
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons 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
Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	42	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
Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	42	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
Charcot-Marie-Tooth disease, axonal, type 2L, 608673, Autosomal dominant; CMT2L (Autosomal dominant Charcot-Marie-Tooth disease type 2L) (HSPB8 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
Neuropathy, distal hereditary motor, type IIA, 158590, Autosomal dominant; HMN2A (Distal hereditary motor neuropathy type 2) (HSPB8 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

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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.