Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal | 1 | 306 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Leukodystrophy and leukoencephalopathy (WES based NGS panel of 90 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 90 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 119 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
PYRUVATE DEHYDROGENASE DEFICIENCY SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 19 |
|
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
|
2,4-dienoyl-CoA reductase deficiency: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 560 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 1 | 1040 |
|
Revvity Omics Revvity United States | 1 | 1 |
|
Two Known Familial Variants in a Nuclear Gene GeneDx United States | 1 | 1043 |
|
GeneDx United States | 1 | 877 |
|
One Known Familial Variant in a Nuclear Gene GeneDx United States | 1 | 1045 |
|
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.