Ordering Recommendation

Comprehensive genetic test to detect alpha thalassemia on fetal samples.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

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).

Specimen Preparation

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).

Storage/Transport Temperature

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

Unacceptable Conditions

Frozen specimens

Remarks
Stability

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

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication, Fetal