Ordering Recommendation

Use for molecular confirmation of suspected structural hemoglobinopathy or β thalassemia on fetal samples.

Mnemonic

BGSEQ FE

Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun-Sat

Reported

5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: Two T-25 flasks at 80% confluent of Cultured Amniocytes or Cultured Chorionic Villus Sampling (CVS). If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 80% confluent of cultured amniocytes or cultured CVS filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND Maternal Specimen: Transport 2 mL whole blood. (Min: 1 mL) Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Maternal Specimen: Room temperature

Unacceptable Conditions
Remarks

Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination, Maternal Specimen. This can be arranged by contacting ARUP genetic counselors at (800) 242-2787 ext. 2141. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability

Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Specimen: Ambient: 1 week; Refrigerated: 1 month

Reference Interval

By report

Interpretive Data

By report

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81364; 81265 Fetal Cell Contamination (FCC)

Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 31208-2
0051366 BGSEQ FE Specimen 31208-2
2013108 BESEQ FE, Interpretation 50397-9
* 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

  • Carrier testing Beta thalassemia
  • Fetal HBB mutation testing
Beta Globin (HBB) Sequencing, Fetal