HBA1/HBA2 Gene Analysis Common Variants
Label Mnemonic: GLOBGENE
Epic Lab Code: LAB2569
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Draw 3.0 mL whole blood in a lavender-top (EDTA) tube.
Absolute Minimum: 1.0 mL whole blood
Rejection Criteria:
Samples greater than 96 hours of age.
Turn Around Time:
8 days upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided.
Comments:
Useful For:
•Diagnosis of alpha-thalassemia
•Prenatal diagnosis of deletional alpha-thalassemia
•Carrier screening for individuals from high-risk populations for alpha-thalassemia

Cautions:
In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow- up testing.

Rare polymorphisms exist that could lead to false-negative or false- positive results. If results obtained do not match the clinical findings, additional testing should be considered.

A previous bone marrow transplant from an allogenic donor will interfere with testing.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

This assay cannot be performed on chorionic villus specimens.

Non-deletion types of alpha-thalassemia will not be detected by this assay. This test is not useful for diagnosis or confirmation of beta- thalassemia or hemoglobinopathies.

Hemoglobin electrophoresis should usually be done prior to this test to exclude other diagnoses or to identify non deletion types of alpha- thalassemia.

Please print, complete, and submit the following with the appropriate signatures and the correct sample type: Molecular Genetics: Congenital Inherited Diseases Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.

Blood is sample of choice.

This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
Methodology:
Dosage Analysis by Polymerase Chain Reaction (PCR), Multiplex Ligation- Dependent Probe Amplification (MLPA) and Luminex Technology.
CPT Code:
81275