Alpha Thalassemia, (HBA1 & HBA2) Deletion and Duplication

Abbrev Code:ARMISC   
Order Code:LAB4909Order Name:Send Outs Misc Test
Methodology:Multiplex ligation-dependent probe amplification
CPT Codes: 81269 x1
Turnaround Time:Specimens are sent to the reference laboratory Mon-Sat; results are available within 14 days or more. Extended TAT as of 11/20/20 - no referral available.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Include a recent CBC and a completed Patient History for Hemoglobinopathy/Thalassemia Testing form. (see Associated Links) with the patient's sample.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes. Counseling and informed consent are recommended for genetic testing.

Associated Links:

Genetic Testing Consent Form, ARUP Patient History Form

Collection Instructions

Optimal Volume:3 mL
Minimum\Peds Volume:2 mL
Container:Purple (EDTA)
Alternate Containers: Yellow (ACD, Solution A) tube available from laboratory

Processing and Shipping

Specimen Processing:Whole blood. Do not process.Store refrigerated.
Shipping Instructions:Ship at refrigerated temperature.
Stability:72 hours at room temperature; 1 week refrigerated.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2011622


Reference Range:By report.
Use:Preferred first-tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. Use to detect common as well as rare and novel deletions or duplications of the alpha globulin gene cluster.

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