Sequence analysis of SERPINC1 is indicated if a patient has unusually low antithrombin III levels by haematological analysis.
Genetics - Molecular Pathology
Ambient (8 - 24 degrees Celsius)
The coding regions and flanking intronic sequences of exons 1-7 of the SERPINC1 gene are amplified using PCR and are analysed by automated fluorescent bi-directional DNA sequencing.
Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.
This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
2.Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
3.If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).
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