HBB Deletion/Duplication Analysis
Use
HBB deletion/duplication analysis is intended for individuals who have a clinical diagnosis of β-thalassemia and have either one or no pathogenic variants detected by HBB full gene sequencing. This test may also be used for carrier screening in individuals at increased risk of being an HBB carrier but have tested negative by HBB full gene sequencing. If testing is needed for a known familial large deletion or duplication, please submit a copy of the laboratory report documenting the familial variant in the index family member.
Special Instructions
Not provided.
Limitations
The MLPA assay is designed to detect single exon, multi-exon, and full gene deletions or duplications. However, it may not detect certain genomic rearrangements such as translocations, inversions, mosaic variants, or partial exon rearrangements. The assay cannot determine exact breakpoints of deletions or duplications and cannot detect point mutations in the HBB gene. Diagnostic errors may occur due to rare sequence variations.
Methodology
Microarray
Biomarkers
HBB
Gene
LOINC Codes
- 8100-0 - Specimen preparation
- 11502-2 - Laboratory report
- 31208-2 - Specimen source
- 21689-5 - HBB gene Mut Anl Bld/T
- 72486-4 - Lab director name Provider
Result Turnaround Time
19-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow-top (ACD)
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; HBB sequencing not previously performed
Other tests from different labs that may be relevant