Propionic Acidemia

Propionic acidemia (PA) is a disorder of organic acid metabolism caused by deficient activity of mitochondrial propionyl-CoA carboxylase. Onset often occurs in the neonatal period and is associated with developmental delay and early death. The common clinical presentation includes severe ketoacidosis, vomiting, poor feeding, lethargy, hypotonia and coma. Hyperammonemia, seizures and hepatomegaly may also be present. A small number of patients have only exhibited neurologic signs. Late-onset patients usually have a milder course.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

2902
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

2901
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.