Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

ABCA12 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCA12
Disorders:
Clinical Utility:
  • A child born with harlequin ichthyosis or with severe congenital ichthyosiform erythroderma
  • An individual of Northern African descent with lamellar ichthyosis without identifiable mutations in TGM1
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • 5. Prenatal diagnosis in families with an affected child and known mutation(s
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:
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Lefevre et al. Hum Mol Genet 12:2369-78, 2003
  2. Kelsell et al. Am J Hum Genet 76: 794-803, 2005
  3. Akiyama et al. J Invest Dermatol 124: A77, 2005
  4. Thomas AC et al. J Invest Dermatol. 2006 Nov;126(11):2408-13
  5. Thomas et al. Br J Dermatol. 2008 Mar;158(3):611-3
  6. Akiyama Human Mutation 31(10): 1090-1096, 2010

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