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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States | 239 | 100 |
|
Invitae Hypertrophic Cardiomyopathy Panel Invitae United States | 69 | 30 |
|
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States | 16 | 17 |
|
CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
CPT2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 4 | 1 |
|
CPT2 Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel. Genologica Medica Spain | 49 | 48 |
|
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain | 133 | 84 |
|
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain | 197 | 128 |
|
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 52 |
|
Fatty acid oxidation syndrome panel. NGS panel of 26 genes. Genologica Medica Spain | 30 | 26 |
|
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain | 409 | 283 |
|
General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
|
CARNITINE PALMITOYLTRANSFERASE II deficiency Duzen Laboratories Duzen BBAGUAS Turkey | 4 | 1 |
|
Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
|
Encephalopathy, acute, infection-induced: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 8 | 8 |
|
Beacon Ashkenazi Jewish Male Carrier Screening Panel Fulgent Genetics United States | 145 | 41 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
|
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.