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 amniotic fluid. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Or amniotic fluid. AND Maternal Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluent of cultured amniocytes filled with culture media. Backup cultures must be retained at the client's institution until testing is complete. OR Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)
AND Maternal Specimen: Transport 3 mL whole blood (Min: 1 mL)

Storage/Transport Temperature

Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic Fluid: Room temperature.
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; Frozen: 6 months

Reference Interval
Interpretive Data

Background Information Beta Globin (HBB) Sequencing, Fetal:
Characteristics: S
tructural hemoglobinopathies or thalassemias (insufficient or absent beta-chain production).
Incidence:
Varies with ethnicity.
Inheritance:
Usually autosomal recessive, infrequently autosomal dominant.
Cause
: Pathogenic variants in the HBB gene.
Clinical Sensitivity:
Up to 97 percent, depending upon ethnicity.
Methodology:
Bidirectional sequencing of the HBB coding regions, intron-exon boundaries, 5'proximal promoter and untranslated region, 3' polyadenylation signal, and intronic variants c.93-21 (IVS-I-110), c.316-197 (IVS-II-654), c.316-146 (IVS-II-705),c.316-106 (IVS-II-745), and c.316-86_316-85 (IVS-II-765 L1).
Analytical sensitivity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Large deletions and variants in distal regulatory elements are not detected.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

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