Clinical and research tests for C1853710 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 56

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TRPV4-related Disorders via the TRPV4 Gene PreventionGenetics, part of Exact Sciences United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TRPV4 Institute for Human Genetics University Medical Center Freiburg Germany	11	1	C Sequence analysis of the entire coding region
Neurodegenerative panel _v.2.0 CGC Genetics Unilabs Portugal	15	207	C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TRPV4 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	10	1	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
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
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metatropic Dysplasia (TRPV4 Single Gene Test) Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis 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
TRPV4-Associated Disorders: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	1	C Sequence analysis of the entire coding region
CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Axonal Athena Diagnostics United States	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Athena Diagnostics United States	10	10	C Sequence analysis of the entire coding region
CMT Advanced Evaluation - Nonprevalent Athena Diagnostics United States	25	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth neuropathy type 2C Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing TRPV4 CeGaT GmbH Germany	9	1	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Panel CeGaT GmbH Germany	44	27	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

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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.

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Results: 21 to 40 of 56

Results: 21 to 40 of 56