Metabolic and mitochondrial tests
Genetic testing for individuals with suspected inherited metabolic or mitochondrial disorders can identify potentially causative variants, resulting in improved outcomes through faster diagnosis and informed treatment decisions. Explore our comprehensive test menu, created and curated by experts, for inherited metabolic and mitochondrial disorders. We offer a wide range of test options, from single genes to larger comprehensive panels, and offer sequencing for both nuclear and mitochondrial-DNA encoded genes.
Showing 10 out of 49 tests
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
NGS with CNV (Exome or Genome Platform)
2 - 3 weeks (6 - 12 days STAT)•Test 10069
2 - 3 weeks (6 - 12 days STAT)•Test 100692 Genes
Biotinidase Deficiency via the BTD Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 9551
2 - 3 weeks (7 - 16 days STAT)•Test 95511 Gene
Butyrylcholinesterase Deficiency via the BCHE Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 7873
2 - 3 weeks (7 - 16 days STAT)•Test 78731 Gene
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 9533
2 - 3 weeks (7 - 16 days STAT)•Test 95331 Gene
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 9563
2 - 3 weeks (7 - 16 days STAT)•Test 95631 Gene
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10507
2 - 3 weeks (7 - 16 days STAT)•Test 1050713 Genes
Congenital Disorders of Glycosylation (CDG) Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10625
2 - 3 weeks (7 - 16 days STAT)•Test 1062554 Genes
Cystinosis via the CTNS Gene, 57-kb Deletion
Targeted PCR2 - 3 weeks (8 - 10 days STAT)•Test 1636
2 - 3 weeks (8 - 10 days STAT)•Test 16361 Gene
Disorders of Fatty Acid Oxidation (FAOD) Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10381
2 - 3 weeks (7 - 16 days STAT)•Test 1038133 Genes
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel
NGS with CNV (Exome or Genome Platform)2 - 3 weeks (7 - 16 days STAT)•Test 10397
2 - 3 weeks (7 - 16 days STAT)•Test 1039739 Genes