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
CPT Code:----------CPTCODES HERE----------
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:

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, 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.
Shipping Instructions:Ship at refrigerated temperature.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:50578


Interpretive

Reference Range:Normal: This specimen has a normal sequence of the b-globin gene. No mutations were identified within the b-globin coding region, the intron/exon splice site boundaries or intronic positions IVS-II 654, IVS-II 705, and IVS-II 745. Gene deletions or mutations causing thalassemias or hemoglobinopathies outside of these regions will not be identified.
Use:Molecular confirmation of a suspected structural hemoglobinopathy or beta thalassemia.


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