Use for molecular confirmation of suspected structural hemoglobinopathy or β thalassemia on fetal samples.
Massively Parallel Sequencing
10-14 days; if culture is required, an additional 1 to 2 weeks is required for processing time
New York DOH Approval Status
Fetal specimen: Two (2) T-25 flasks at 80% 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 (2) T-25 flasks at 80 percent 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. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787 ext. 2141 prior to test submission
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min: 2 mL).
Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Maternal Specimen: Room temperature
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
Refer to report
Laboratory Developed Test (LDT)
Gene tested: HBB (NM_000518)
Deletion/duplication analysis is not performed for this gene.
Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||59266-7|
|0050612||Maternal Contam Study, Maternal Spec||66746-9|
|3004551||BG FE Specimen||66746-9|
|3004552||BG FE Interp||21689-5|
- B thalassemia
- beta thalassemia
- Cooley's anemia
- Hb C
- Hb E
- Hb S
- hemoglobin C
- hemoglobin E
- hemoglobin S
- sickle beta thalassemia
- sickle cell anemia
- sickle cell disease