Use for molecular confirmation of suspected structural hemoglobinopathy or β thalassemia on fetal samples.
Polymerase Chain Reaction/Sequencing
New York DOH Approval Status
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.
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).
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
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.
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Specimen: Ambient: 1 week; Refrigerated: 1 month
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.
Laboratory Developed Test (LDT)
81364; 81265 Fetal Cell Contamination (FCC)
|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|
- Carrier testing Beta thalassemia
- Fetal HBB mutation testing