Ordering Recommendation

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

New York DOH Approval Status

This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.

Specimen Required

Patient Preparation

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 institution until testing is complete. If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, CG GRW&SND should be added to initial order
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min: 1 mL).

Storage/Transport Temperature

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

Unacceptable Conditions

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


Massively Parallel Sequencing




14-21 days
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)


Gene tested: HBB (NM_000518)
Deletion/duplication analysis is not performed for this gene.

Reported times are based on receiving the two T-25 flasks at 90 percent confluent. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

Hotline History


CPT Codes

81364, 81265


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
* 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.


  • B thalassemia
  • 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
Beta Globin (HBB) Sequencing, Fetal