Confirmatory genetic test on fetal samples for the prenatal detection of structural hemoglobinopathies and beta thalassemia.
Polymerase Chain Reaction/Sequencing
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).
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)
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.
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; Frozen: 6 months
Background Information Beta Globin (HBB) Sequencing, Fetal:
Characteristics: Structural 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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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
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