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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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