ADULT HEMOGLOBINOPATHY SCREENING

Laboratory: Newborn Screening

Test Description: Screening includes presumptive identification of normal and abnormal hemoglobin variants, possible beta thalassemias, and quantitation of elevated A2 and F hemoglobins using High Performance Liquid Chromatography (HPLC).

Order Approval Required? No

Specimen Type: Whole blood collected via venipuncture in lavender-top Ethylenediaminetetraacetic acid (EDTA) tube

Collection Container: lavender-top (EDTA) tube

Optimal Volume: 5 ml of venous blood preferred (minimum of 2 ml required)

Collection Guidelines: Whole blood specimens (adult or pediatric) should be collected into lavender-top tube containing EDTA as an anticoagulant.

Storage Container: Not Applicable

Storage Instructions: Whole blood specimens are stable for 7 days at 2-8˚C or 48 hours at ambient temperature (22-24˚C). Store samples at 2-8˚C until shipping and ship samples at 2-8˚C.

Transportation Instructions: Send specimens at 2-8˚C to DCLS by the DCLS courier service or by a private courier service.

Test Methodology: High Performance Liquid Chromatography (HPLC)

Causes For Rejection:

• Insufficient volume or poor specimen quality
• Incorrect collection tube
• Patient information is insufficient or patient information on specimen and request form (submitted or electronic) do not match
• specimen received outside of age/temperature thresholds listed above

Possible Results: Normal adult hemoglobin pattern is AA. Disease states or traits can be identified for the following hemoglobins: S, C, F, and V (unidentified variant). Quantitative abnormal values for A2 and F are reported for possible beta thalassemias.