Beta Globin (HBB) Sequencing


Sunquest Code:BGLSEQ  
Epic Code:LAB6695Epic Name:Beta Globin Gene Sequencing
Synonyms:HHB Mutation Testing; B Globin Gene
Methodology:Polymerase chain reaction; sequencing
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat; results are reported within 2-3 weeks.
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.
Compliance:

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, Hemoglobinopathy/Thalassemia Testing Form



Collection Instructions

Specimen:Blood
Optimal Volume:3 mL
Minimum\Peds Volume:1 mL
Container:Purple (EDTA) (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:1 week at room temperature; 1 month refrigerated; 6 months frozen.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:50578


Interpretive

Reference Range:By report.
Use:Molecular confirmation of a suspected structural hemoglobinopathy or beta thalassemia.


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