Johns Hopkins DNA Diagnostic Laboratory

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Beta Thalassemia – Gene Sequencing + 619bp deletion
 
Gene:    HBB (Beta globin)
   
Test:   Direct analysis of the ß globin gene coding sequence and intron-exon boundaries; plus analysis for the 619 base pair deletion in the 3' end of the gene
   
CPT Codes:   83891 x 1
83894 x 1
83898 x 5
83904 x 8
83909 x 8
83912 x 1
Sensitivity:   99%
This test will not detect large deletions or rearrangements of the beta globin gene (such as delta-beta thalassemia or Hereditary Persistence of Fetal Hemoglobin).
  
Cost:   $720 per individual blood sample
       
Turn Around Time:    Up to 3 weeks
Special Considerations:   We request Hb electrophoresis & MCV, iron studies if available.

 Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Beta Thalassemia.

Link to Patient and Family Page for general resources on genetic testing.