Clinical and research tests for 118210 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Charcot-Marie-Tooth disease, type 2A1, 118210, Autosomal dominant; CMT2A1 (Autosomal dominant Charcot-Marie-Tooth disease type 2A1) (KIF1B 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
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
KIF1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	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	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
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
KIF1B MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Hereditary Paraganglioma-Pheochromocytoma Genologica Medica Spain	32	12	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	68	54	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	76	54	C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth neuropathy type 2A1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing KIF1B CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Asper Biogene Asper Biogene LLC Estonia	89	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIF1B Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis 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.