Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication, Fetal
Ordering Recommendation
Comprehensive genetic test to detect alpha thalassemia on fetal samples.
New York DOH Approval Status
Specimen Required
Fetal Specimen: Two T-25 flasks at 90% confluent of cultured amniocytes or cultured chorionic villus sampling (CVS).
AND Maternal Whole Blood Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS filled with culture media. Backup cultures must be retained at the client's insitution until testing is complete. If ARUP receives a sample below the minimum confluence, Cytogenetics Grow and Send (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, Cytogenetics Grow and Send should be added to initial order.
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min: 1 mL).
Cultured Amniocytes or Culture CVS: CRITICAL ROOM TEMPERATURE. Separate specimens must be submitted when mulitple tests are ordered. Must be received within 48 hours of shipment due to viability of cells.
Maternal Specimen: Refrigerated
Frozen specimens
Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable
Methodology
Qualitative Multiplex Ligation-Dependent Probe Amplification (MLPA)/Qualitative Sequencing
Performed
Varies
Reported
14-21 days
Notes: If culture is required, an additional 1 to 2 weeks is required for processing time.
Reference Interval
By report
Interpretive Data
Refer to report
Laboratory Developed Test (LDT)
Note
Reported times are based on receiving the two T-25 flasks at 90 percent confluent. Cell culture time is independent of testing turnaround time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.
Hotline History
Hotline History
CPT Codes
81259; 81269; 81265
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
0050548 | Maternal Contamination Study Fetal Spec | 59266-7 |
0050612 | Maternal Contam Study, Maternal Spec | 66746-9 |
3019567 | HBA FGA FE Int | 35474-6 |