α-Thalassemia, DNA Analysis
Also known as: Alpha-Thal
Use
Not provided.
Special Instructions
Not provided.
Limitations
This test is designed to detect copy-number changes in the α-globin gene cluster (deletions and duplications) of 28 different sequences in the HBA region. In addition, the assay detects the presence of the Constant Spring (Hb CS) mutation. Other point mutations, and variants in other genes, will not be detected by this assay. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur.
Methodology
Polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA)
Biomarkers
LOINC Codes
- 21688-7 - HBA1 gene Mut Tested Bld/T
- 21687-9 - HBA1 gene Mut Anl Bld/T
Result Turnaround Time
9-12 days
Related Documents
For more information, please review the documents below
Specimen
Unknown
Volume
Not provided
Minimum Volume
Not provided
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
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