Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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

PSAP Gene Sequencing



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
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)
* For price inquiries please email


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