Alagille Syndrome (JAG1) Sequencing and Deletion/Duplication
2006230
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
JAG1 FGA
Methodology
Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
7-8 weeks  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA). Also acceptable: Pink (K2EDTA).  
Specimen Preparation
Transport 5 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.  
Unacceptable Conditions
  
Remarks
Clinical indication or reason for testing is required.  
Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
 
Note
 
CPT Code(s)
81407; 81406
Components
Component Test Code*Component Chart Name
2006231JAG1 Sequencing and Del/Dup
2010873Ordering Physician Name
2010874Ordering Physician Phone Number
2010897EER Alagille Syndrome (JAG1)
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • AGS
  • Alagille-Watson Syndrome
  • Arteriohepatic dysplasia
  • Cholestasis with peripheral pulmonary stenosis
  • JAG1 Tier 1
  • Syndromatic hepatic ductular hypoplasia

Performed at GeneDx