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.

[Available Tests]
[Contact Us]  

Beta Globin Variants

Gene:    HBB (Beta globin)
Test:   Direct mutation analysis by PCR for Hb C, E, O-Arab, D-Punjab, or other KNOWN variant as specified by the referrer.
CPT Code:
Sensitivity:   Should be high
Cost:   $302 per individual blood sample 
(if testing for a known variant)
Turn Around Time:    2 to 3 weeks
Special Considerations:   We request hemoglobin electrophoresis & other relevant clinical confirmation with each sample.

This test is for molecular confirmation of a known beta globin variant. If the beta globin variant is unknown or has multiple possible subtypes, please order the beta globin complete gene sequencing test.

Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on some hemoglobin variants.

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