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Test Code LAB2842 Beta Hemoglobin Sequencing

Important Note

This test sequences the coding regions and introns of the beta-globin gene (HBB).

There are currently over 800 hemoglobin variants catalogued, of which approximately 500 are due to mutations in the beta-globin gene. In addition, approximately 95% of beta-thalassemia is caused by point mutations. This test, which sequences the coding regions and introns of the beta-globin gene (HBB) in both directions, identifies hemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia"

Clinical System Name

Beta Hemoglobin Sequencing

Synonyms

Beta Hb

Beta Globin

Globin
Hb Beta

HBB
HBSEQ

Hemoglobin C

Hemoglobin S

Hemoglobinopathy

Sickle Cell

Thalassemia intermedia

Thalassemia major

Description

Sequencing of HBB to analyze genetic causes of Beta-Thalassemia performed at UW GSTL. 

Sample Requirements

Whole blood is the preferred specimen type for this test.

Specimen: Whole Blood

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

Preferred Vol: 5.0 mL

Minimum Vol: 2.0 mL

 

Specimen: Extracted DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 30 ul at a concentration of 100ng/ul concentration

Minimum Vol: 20 ul at a concentration of 100ng/ul

 

Alternative Specimen (e.g. saliva or buccal): not accepted at this time.

 

Processing Instructions

Reject due to: Dark Green/Sodium Heparin or Formalin-fixed paraffin-embedded tissues

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage Location: Do not spin or separate specimen. Store whole blood affixed with a large label in the CPA 1 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 3 w

 

Performing Laboratory

University of Washington Genetics and Solid Tumors Laboratory (UW GSTL)

Department of Laboratory Medicine

Genetics Lab
1959 NE Pacific St, NW220
Seattle, WA 98195
 

Phone Number: (206) 520-4600

Department

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

Methodology

Capillary sequencing

Reference Range

Interpretive report provided.

 

Clinical Utility

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

Send Out Instructions

Reference Test Name: Beta Hemoglobin DNA Sequencing
Reference Test Number: HBSEQ
Instructions: Send out Monday through Friday with the UW courier.

 

Resources

Reference Lab Test Page

GeneReviews