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Alagille Syndrome (JAG1) Sequencing and Deletion/Duplication

CPT Code(s): 81479
Specimen Required: Patient Preparation:
Collect: Lavender (EDTA). Also acceptable: Pink (K2EDTA).
Specimen Preparation: Transport 5 mL whole blood. (Min: 2 mL)
Storage/Transport Temperature: Refrigerated. Protect from extreme temperatures.
Stability: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: This test is New York DOH approved.
Aliases:
  • AGS
  • Alagille-Watson Syndrome
  • Arteriohepatic dysplasia
  • Cholestasis with peripheral pulmonary stenosis
  • JAG1 Tier 1
  • Syndromatic hepatic ductular hypoplasia
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