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Test Code ATHAL Alpha Thalassemia DNA Screen

Important Note

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

Clinical System Name

Alpha Thalassemia DNA Screen

Synonyms

α Thalassemia

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

 

 

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

Processing Instructions

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

Spin: N

Aliquot:N

Temp: RT

Storage location: Do not spin or separate specimen. Store whole blood affixed with a large computer label in the CPA refrigerator send outs rack.

 

Off-site collection: Do not spin or separate specimen. Transport at room temperature.

Stability

Specimen Type Temperature Time
Whole blood Room temp 1 w
  Refrigerated 1 w
  Frozen  

 

Availability

STAT Performed TAT
N Collected daily, performed weekly at UW 1 -2 w

 

Performing Laboratory

University of Washington

Dept of Laboratory Medicine

Genetics Lab

1959 NE Pacific St, NW220
Seattle, WA 98195

 

Phone Number: (206) 520-4600


 

Department

Department:  Send Outs
 

Phone Number: (206) 987-2563

 

 

Reference Range

Interpretive report provided.
 

 

 

 

Methodology

Method: This assay detects six of the most common deletions found in patients with alpha-thalassemia [Chong et al, 2001]. In two of these common deletions, the 3.7 kb deletion type and the 4.2 kb deletion type, only one of the four alpha globin genes is deleted. In the other four common deletions, known as the SEA (Southeast Asian) deletion type, FIL (Filipino) deletion type, the THAI (Thailand) deletion type, and the MED (Mediterranean) deletion type, two adjacent (cis) alpha-globin genes are deleted (both from the same chromosome). About 95% of all alpha-thalassemia is due to gene deletions that are detected by this test (detection rates may vary in specific populations).

Analytical Volume: 1.0 mL whole blood

Limitations:

CPT Codes

81257 (updated 8/17/17 by sstasi)

Send Out Instructions

 

Reference Test Name: Alpha Thalassemia DNA Screen
Reference Test Number: ATHAL
Instructions: Send out M - F with the UW courier.