Beta619

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 Globin-619 base pair deletion
Gene:		HBB (Beta globin)
Test:		Direct mutation analysis by PCR for the 619 base pair deletion at the 3' end of the gene.
CPT Codes:		83891 x 1 83894 x 1 83898 x 1 83912 x 1
Sensitivity:		Should be high.
Cost:		$240 per individual blood sample
Turn Around Time:		1 to 2 weeks
Special Considerations:		We request hemoglobin electrophoresis, CBC & other relevant clinical confirmation with each sample. This deletion occurs almost exclusively in the Asian Indian population, with frequencies ranging from 1 to 25% depending on geographic region of origin. This test does not detect other deletions in the beta globin region. The 619 base pair deletion is included in the beta thalassemia gene sequence test.