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.

IKBKG (NEMO) Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
IKBKG (NEMO)
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing|Exon Array CGH

ORDERING

Test Code:
553
Turnaround Time:
7-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1, 88271x30, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 757.4: Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
  • 520: Anodontia Absence of teeth (complete) (congenital) (partial), Hypodontia Oligodontia
  • 757.33: Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 361: Retinal detachment with retinal defect, unspecified
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010

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