ADULT HEMOGLOBINOPATHY SCREENING
Laboratory: Newborn Screening
Test Description: Hemoglobin identification to include normal and abnormal hemoglobin Variants and beta thalassemias. Solubility testing of Hemoglobin S and quantitation of elevated A2 and F hemoglobins are also performed.
Order Approval Required? No
Specimen Type: Whole blood collected via venipuncture or finger stick lavender-top Ethylenediaminetetraacetic acid (EDTA) tube
Collection Container: lavender-top (EDTA) tube
Optimal Volume: 5 ml of venous blood preferred (minimum of 1 ml required) or 100 microliters of finger stick blood
Collection Guidelines: Whole blood specimens (adult or pediatric) or finger stick blood should be collected into lavender-top tube containing EDTA as an anticoagulant.
Storage Container: Not Applicable
Storage Instructions: Specimens should be refrigerated until transport to DCLS. Specimens should be sent to DCLS within 48 hours after collection. Specimens with a collection date greater than 10 days of arrival at DCLS will not be tested.
Transportation Instructions: Specimens may be sent to DCLS by the DCLS courier service, USPS mail, or by a private courier service.
Test Methodology: Specimens are initially screened with HPLC (High Performance Liquid Chromatography) methodology. Confirmation of an abnormal hemoglobin variant is performed by IEF (Isoelectric Focusing—Gel Electrophoresis). Solubility testing of hemoglobin S is performed by a Sickling Hemoglobin Screening Kit.
Additional Information: Forensic specimens from the Medical Examiner's Office are accepted for testing at the discretion of the Newborn Screening Group Manager. Please contact DCLS, Newborn Screening Laboratory, prior to submitting forensic specimens.
Causes For Rejection: Insufficient amount or poor specimen quality; wrong type of collection tube; patient information on specimen and request form (submitted or electronic), do not match; specimen greater than 10 days from collection date.
Possible Results: Normal adult hemoglobin pattern is AA. Disease states or traits can be identified for the following hemoglobins: S, C, D, E, F, and V (unidentified variant). Quantitative abnormal values for A2 and F are reported for possible beta thalassemias.