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.

JAG1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
JAG1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • 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:
81406x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 745.2: Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 576.8: Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 571.9: Unspecified chronic liver disease without mention of alcohol
  • 746.02: Stenosis, congenital
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Warthen, DM. et al., Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate. Hum Mutat. 27: 436-443, 2006
  2. Kamath, BM. et al., Consequences of JAG1 mutations. J Med Genet. 40: 891-895, 2003

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