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Alpha Globin (HBA1 and HBA2) Deletion/Duplication

Important Note

This test is under Utilization Management. All requests are reviewed and must be approved by a pathologist as part of the lab stewardship program.

Alpha Hemoglobin Common Deletions is recommended as a first-tier test.

Clinical System Name

Miscellaneous Genetic Test

Synonyms

A globin

Alpha globin gene analysis

Alpha globin mutations

Alpha thalassemia

Description

Deletion/duplication analysis of HBA1 and HBA2 to analyze genetic causes of Alpha-Thalassemia performed at ARUP.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA, Yellow/ACD

Preferred Vol: 3.0 mL

Minimum Vol: 1.0 mL

 

NOTE: Extracted DNA is NOT an accepted specimen type.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage Location: CPA 3 refrigerator, Send Outs rack.

 

Off-site Collection: Store and transport refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room Temp 72 h
  Refrigerated 1 w
  Frozen Unacceptable

 

Availability

STAT Performed TAT
N Varies 1-2 w

 

Performing Laboratory

ARUP Laboratories

500 Chipeta Way
Salt Lake City, UT 84108-1221

 

Phone Number: (800) 522-2787

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

Methodology

MLPA (multiplex ligation-dependent probe amplification)

Clinical Utility

A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.

Reference Ranges

Interpretive report provided.

Send Out Instructions

Reference Test Name: Alpha Globin (HBA1 and HBA2) Deletion/Duplication
Reference Test Code: 2011622
Instructions: Send Monday through Friday with the ARUP courier.

 

Resources

Reference Lab Test Page

Test Information Sheet

GeneReviews

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