Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

NPC2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NPC2
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Carrier testing in unaffected family members
  • 3. Prenatal diagnosis in families with known mutation
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479X1
New York Approved:
Yes
ABN Required:
Yes
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)
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254

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