In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015. We will resume our normal schedule on Tuesday, September 8, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
Saposin A Deficiency
Mutations in the PSAP gene have been associated with prosaposin deficiency, Krabbe disease, metachromatic leukodystrophy and Gaucher disease. There have been only a few reports of patients with prosaposin deficiency all of whom were described as having a severe neurovisceral storage disease that was evident at birth with a rapidly fatal course. Hypotonia, hepatosplenomegaly, myoclonic […]
PSAP Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Testing of patients with the phenotype of metachromatic leukodystrophy, Gaucher disease or Krabbe disease without the characteristic in vitro enzyme deficiency.
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 330.2: Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
- 330.0: Leukodystrophy
- 272.2: Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
- 272.7: Lipidoses (Fabry Disease)
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