Alpha Globin (HBA1 and HBA2) Sequencing and Duplication and Deletion

Sunquest Code:AGSQDD  
Epic Code:LAB6834Epic Name:Alpha Globin Seq and Deletion and Duplication
Methodology:Polymerase chain reaction; sequencing/Multiplex ligation-dependent probe amplification
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat; results are reported within 14-24 days.
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 C 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.

The performance characteristics of this test were validated by ARUP Laboratories, Inc. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Associated Links:

Genetic Testing Consent Form, Patient History for Hemoglobinopathy/Thalassemia Testing Form

Collection Instructions

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

Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature.
Stability:Stability: 72 hours at room temperature; 1 week refrigerated
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2011708


Reference Range:By report.
Use:Comprehensive test for detection of alpha thalassemia or alpha thalassemia trait.

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