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.

TGM1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TGM1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
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. Huber M, et al., Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-8 (1995)
  2. Russell LJ, et al., Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-83 (1995)
  3. Shevchenko YO, et al., Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 106:492-9 (2000)

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