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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain | 96 | 74 |
|
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain | 409 | 283 |
|
General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
|
Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
|
EARS2 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States | 1 | 1 |
|
EARS2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
|
EARS2 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States | 1 | 1 |
|
Combined oxidative phosphorylation deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 39 | 39 |
|
Fulgent Genetics United States | 1 | 1 |
|
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States | 416 | 235 |
|
Leukodystrophy and Leukoencephalopathy Asper Biogene Asper Biogene LLC Estonia | 47 | 39 |
|
Leukodystrophy and Leukoencephalopathy Panel CeGaT GmbH Germany | 36 | 35 |
|
Leukodystrophy / Leukencephalopathy Panel CeGaT GmbH Germany | 36 | 35 |
|
Mitochondrial Diseases (mtDNA and 217 nuclear genes) Asper Biogene Asper Biogene LLC Estonia | 89 | 210 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5127 | 4672 |
|
Fulgent Genetics United States | 1103 | 676 |
|
Fulgent Genetics United States | 155 | 69 |
|
Combined Oxidative Phosphorylation Deficiency 12 MGZ Medical Genetics Center Germany | 1 | 1 |
|
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.