Clinical and research tests for C5193096 - Genetic Testing Registry (GTR)

Results: 1 to 13 of 13

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
NARS2 - 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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	96	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Deafness, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	75	75	C Sequence analysis of the entire coding region
Hearing Loss NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	198	157	C Sequence analysis of the entire coding region
Mitochondrial Diseases (mtDNA and 217 nuclear genes) Asper Biogene Asper Biogene LLC Estonia	89	210	C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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: 1 to 13 of 13

Results: 1 to 13 of 13