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Test Code LAB3722 Alpha Hemoglobin Common Deletions

Important Note

This assay detects six of the most common deletions in HBA1 and HBA2 found in patients with alpha-thalassemia.

Additional Codes

Alpha Globin

Clinical System Name

Alpha Hemoglobin Common Deletions

Synonyms

α Thalassemia

Alpha Globin

HBA1

HBA2

Alpha Globin

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 2.0 mL

Minimum Vol: 1.0 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 20-30 ul of 100ng/ul concentration

 

Alternative Specimen (e.g. saliva): Not accepted at this time.

 

Note: Yellow top ACD tubes also acceptable. Buccal cells are acceptable for transplant patients. For other specimen types contact the UW Genetics Lab (206-598-6429).

Processing Instructions

Reject due to: Heparinized sample or Formalin-fixed paraffin-embedded tissues

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage Location: Do not spin or separate specimen. Store whole blood affixed with a large Epic label in the CPA refrigerator, Send Outs rack.

 

Off-site Collection: Do not spin or separate specimen. Transport refrigerated.

Stability

Specimen Type Temperature Time
Whole B lood Room temp 3 d
  Refrigerated 7 d
  Frozen N
Extracted DNA Room temp 3 - 4 d
  Refrigerated 1 y
  Frozen Indefinitely

Availability

STAT Performed TAT
N Weekly 1 - 2 w

 

Performing Laboratory

University of Washington Medical Center

Department of Laboratory Medicine

Genetics Lab

1959 NE Pacific Street, Room NW220

Seattle, WA 98195

 

Phone Number: (206) 520-4600


 

Department

Department: Send Outs/Genetic
Phone Number: (206) 987-2563

Methodology

This assay detects the six most common deletions found in individuals with alpha thalassemia (alpha-3.7, alpha-4.2, SEA [Southeast Asian], FIL [Filipino], THAI [Thailand], and MED [Mediterranean]). These target deletions on the HBA1 and HBA2 genes are evaluated using PCR (Polymerase Chain Reaction) with agarose gel electrophoresis. Other variants in the HBA1 and HBA2 genes (e.g., hemoglobin Constant Spring, alpha-thalassemia Saudi) are not detectable by this assay.

 

Reference Range

Interpretive report provided.

Special Instructions

UWMC

 

 

Clinical Utility

GeneReviews

Send Out Instructions

Reference Test Name: Alpha-Globin Gene Analysis
Reference Lab Test Code: AGGA
Instructions: Send out Monday through Friday with the UW courier.

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