Test Code: HAEMOA
Haemophilia A (Intron 22 & I Inversion reflex to Sequencing)
Rare-Diseases
Detection of the common F8 intron 22 and intron 1 inversions, the most frequent pathogenic rearrangements causing severe Haemophilia A. Testing is performed using PCR-based inversion analysis, with MLPA (Multiplex Ligation-dependent Probe Amplification) used to detect exon-level deletions and duplications within the F8 gene. This assay assists in the molecular diagnosis of Haemophilia A and carrier testing in at-risk individuals.
Sample Type
Blood in EDTA, Amniotic Fluid (>25mL)
Turnaround Time
15 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
F8
Methodology
PCR, MLPA
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