BetaSeq

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.