Clinical and research tests for C3553656 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 40

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
REEP1-Related Disorders via the REEP1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	98	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	30	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
REEP1 single gene sequencing Molecular Vision Laboratory United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronopathy, distal hereditary motor: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	525	339	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
Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States	185	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSP, Complete Dominant Evaluation Athena Diagnostics United States	17	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSP, Comprehensive Evaluation Athena Diagnostics United States	40	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSP, Common Dominant Evaluation Athena Diagnostics United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel CeGaT GmbH Germany	22	17	C Sequence analysis of the entire coding region
Single gene testing REEP1 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
REEP1 Single Gene Fulgent Genetics United States	2	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
Distal Hereditary Motor Neuropathy NGS Panel Fulgent Genetics United States	38	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spastic Paraplegia NGS Panel Fulgent Genetics United States	53	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Neuropathies NGS Panel Fulgent Genetics United States	91	38	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.

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Results: 21 to 40 of 40

Results: 21 to 40 of 40