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.

MCOLN1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MCOLN1
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. Carrier testing in unaffected family members
  • 3. Prenatal diagnosis
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:
  • 272.7: Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Bargal (2000) Nat Genet 26, 118
  2. Bassi (2000) Am J Hum Genet 67, 1110
  3. Sun (2000) Hum Mol Genet 9, 2471
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450

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