Ordering Recommendation

Use for molecular confirmation of β thalassemia or a structural hemoglobinopathy involving the β-globin gene. To assess for HBB variants associated with hereditary persistence of fetal hemoglobin (HPFH), order Deletion/Duplication Analysis by MLPA (3003144).

Mnemonic

BG NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 7 mL whole blood (Min. 3 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions
Remarks

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

HBB (NM_000518)
Deletion/duplication analysis is not available for this gene.

Hotline History

N/A

CPT Codes

81364

Components

Component Test Code* Component Chart Name LOINC
3004548 BG Specimen 66746-9
3004549 BG 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.

Aliases

  • 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