PDHA1 Gene Sequencing

Forms and Documents

Test Details

PDHA1
  • 1. Confirmation of biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

461
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 330.8 Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
* For price inquiries please email zebras@genedx.com

References

  1. Ridout et al., (2008) Hum Genet 124:187-193
  2. Lissens et al., (2000) Hum Mutat 15:209-219
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760
  4. Quintana et al., (2010) Clin Genet 77:474-482