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Test Code CholstsUM Cholestasis Genetic Panel

Important Note

The EGL laboratory requires a completed Genetic Cholestasis Panel test requisition and a signed Informed Consent form to proceed with this testing.

Clinical System Name

Cholestasis Genetic Panel

Description

Neonatal cholestasis is often clinically defined as the prolonged occurrence of conjugated hyperbilirubinemia in the newborn period, due to impairments in the flow of bile. It is caused by a diverse group of hepatobiliary diseases with overlapping clinical presentations, supporting a need for multi-gene diagnostic panel.

Sample Requirements

Specimen: Whole blood

Container(s): Lavender/EDTA

Preferred Vol: 10.0 mL

Minimum Vol: 3.0 mL; Infants (<2 years): 2-3 ml

 

Specimen: Saliva

Container(s): Oragene Collection Kit

Preferred Vol:

Minimum Vol:

 

Note: 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location:  Do not spin. Deliver blood to Sendouts refrigerator rack.

 

Off-site collection:

Stability

Specimen Type Temperature Time
  Room temp

 

  Refrigerated  
  Frozen

 

 

Availability

STAT Performed TAT
N  Drawn daily 12 w

 

Performing Laboratory

Emory Genetics Laboratory

Department

Department:  

Emory Genetics Laboratory

2165 N Decatur Road
Decatur, GA 30033
 

 

Phone Number

855-831-7447

 

 

Reference Range

Interpretive report provided.
 

 

Methodology

Method: Sequencing

Analytical Volume: None specified

Limitations:

CPT Codes

Email LabGC@seattlechildrens.org

 

Send Out Instructions

 

Reference Test Name: Neonatal and Adult Cholestasis: Sequencing Panel
Reference Test Number:

MM340

Instructions:

Send within 5 days of collection at room temperature via FedEx. Samples are received between 8:30 AM - 5:00 PM, Monday - Friday, with delivery available on Saturdays from 9:00 AM - 1:00 PM (FedEx and UPS deliveries only).