In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015. We will resume our normal schedule on Saturday, November 28, 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
- Alternative Specimen:
- Oral Rinse (30-40 mL)
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy * For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
- ICD-9 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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