Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

SPINK5 Gene Sequencing

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 mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
127
Turnaround Time:
9-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 795.79: Other and unspecified nonspecific immunological findings, Raised antibody titer, Raised level of immunoglobulins
* 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

Back To Top