Clinical and research tests for C1858278 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	30	C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	67	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
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	11	11	C Sequence analysis of the entire coding region
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Reference Laboratory Genetics Spain	60	49	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Reference Laboratory Genetics Spain	41	32	C Sequence analysis of the entire coding region
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Reference Laboratory Genetics Spain	41	31	C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	C Sequence analysis of the entire coding region
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Disease Type 4 , Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,PRX,SH3TC2 Genes Reference Laboratory Genetics Spain	5	5	D Deletion/duplication analysis
Charcot-Marie-Tooth Disease Type 4B2 , Sequencing SBF2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Glaucoma Asper Biogene Asper Biogene LLC Estonia	19	20	C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Demyelinating Athena Diagnostics Inc United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Athena Diagnostics Inc United States	25	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glaucoma (Advance) GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	37	34	C Sequence analysis of the entire coding region
CHARCOT- MARIE TOOTH GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	34	32	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 56

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.