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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:
84311x1, 88271x10, 88291x1
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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