Glycogen Storage Disease (GSD) Type IX; Phosphorylase b Kinase-Special Handling Required - LG5960


Sunquest Code:LSMISC  
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Order Instructions:Order test code 097102 in ARUP Connect and send directly to Duke University via FedEx. See Special Instructions.
Synonyms:Anderson Disease; Branching Enzyme Deficiency; Amylopecinosis
Methodology:Enzyme activity
CPT Code:82657
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur before 1400; results are reported within 2-3 weeks.
Special Instructions:Specimens must be drawn after 10 am and sent to the reference laboratory, Mon-Thur by 1400. Specimen must be received at performing laboratory within 24 hours of collection and include both the patient and control sample. For direct submission instructions, please contact ARUP Referral Testing at 800-242-2787, Ext. 5145.


Collection Instructions

Specimen:Blood
Optimal Volume:10 mL from each patient and control
Minimum\Peds Volume:8 mL from each patient and control
Collection Instructions:Send a control sample from a healthy and unrelated donor with the patient sample. Try to draw patient and control at approximately the same time and indicate clearly which sample is the control sample.
Causes for Rejection:Samples greater than 24 hours old. Room temperature or frozen samples. Samples not sent without a control sample.


Processing and Shipping

Specimen Processing:Do not process. Must include nonrelated control specimen.
Shipping Instructions:Ship overnight at refrigerated temperature to arrive Mon-Fri only (no holidays). Both control and patient sample must arrive within 24 hours of collection.
Test Performed at or Referral Lab Lab Sendouts  (Duke University Medical Center: Glycogen Storage Disease Laboratory via ARUP)


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