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NPC1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NPC1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • 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:
84311x1, 88271x10, 88291x1
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. Park et al., (2003) Hum Mut 22:313
  2. Verot et al., (2007) Clin Genet 71:320-30
  3. Sevin et al., (2007) Brain 130:120-133
  4. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254
  5. Millat et al., (2005) Mol Genet Metab 86:220-232

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