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.

SPINK5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SPINK5
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • To distinguish NTS from other forms of NCIE
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutations
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:
  • 795.79: Other and unspecified nonspecific immunological findings, Raised antibody titer, Raised level of immunoglobulins
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 757.4: Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Chavanas et al. Nat Genet. 25(2):141-142, 2000
  2. Sprecher et al. J Invest Dermatol 117(2):179-87, 2001
  3. Bitoun et al. J Invest Dermatol 118:352-361, 2002a
  4. Bitoun et al. Prenat Diagn. 22(2):121-126, 2002b
  5. Richard et al. Netherton Syndrome: J Invest Dermatol 122:483A, 2004

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