Alpha-Globin Gene Deletion/Duplication

Message
Specimen Requirement: Preferred Specimen: 5 mL whole blood collected in an EDTA (lavender-top) tube. Immediate Specimen Processing: Do not hold specimen; forward to laboratory when specimen arrives. Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission2) Documentation of parental carrier status must be provided3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Ambulatory Transport Temperature to Inova Central Lab: AmbientSpecimen Stability: Whole bloodAmbient: 30 daysRefrigerated : 30 daysFrozen: 30 daysFetal specimensAmbient: 48 hoursRefrigerated : UnacceptableFrozen: Unacceptable


Test Code
LAB12065 ATHAL


Alias/See Also
ATHAL


CPT Codes
81269

Includes
@BKRCERMSGREFRESH(2302793)@ @BKRCERMSGREFRESH(2302794)@


Instructions
Processing Instructions: Do not hold specimen; forward to laboratory when specimen arrives.Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission2) Documentation of parental carrier status must be provided3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.Preferred Testing Volume: 5 mL whole blood10 mL amniotic fluidMinimum Testing Volume: 3 mL whole blood10 mL amniotic fluid Transport Temperature: AmbientStability: Ambient: 48 hoursRefrigerated : UnacceptableFrozen: Unacceptable Causes for Rejection: Do not rejectPerforming Lab: Quest Diagnostics SJC


Report Available
30-Days


Clinical Significance
1230170914



Last Updated: May 18, 2026


The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.