Plasminogen Gene Sequencing

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Special Instructions

The PLG gene is sequenced using Next Generation Sequencing (NGS).



Specimen Requirements


Specimen

Whole blood; acceptable alternate: cheek swab (buccal swab)


Volume

3 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Invert tube 4 times to ensure adequate mixing.


Storage Instructions

Room temperature


Stability Requirements

Temperature

Period

Room temperature

1 month


Causes for Rejection

Sample contamination


Test Details


Use

PLG is the human gene coding for the plasminogen protein. Plasminogen deficiency is the major disorder associated with mutations in PLG.


Limitations

This genetic panel is designed to detect single nucleotide variants, multiple nucleotide variants, smallindels (<50bps), and large copy number variations (deletions or duplications spanning multiple exons). The panel may miss some structural variants such as inversions, translocations, medium sized deletions/duplications, and medium/large insertions; these types of structural variants are considered to be rare, and are challenging to detect for any clinical method without prior knowledge of the nature and location of the specific structural variant.Copy number assays determine the presence of zero, one, two (normal), or three plus copies (ie, it cannot distinguish four from five copies, though either would be abnormal) of the gene or gene region. This test does not detect acquired or non-hereditary disorder.


Methodology

Next Generation Sequencing (NGS)


References

Mehta R, Shapiro AD. Plasminogen deficiency. Haemophilia. 2008 Nov;14(6):1261-1268.19141167
Okamoto A, Sakata T, Mannami T, et al. Population-based distribution of plasminogen activity and estimated prevalence and relevance to thrombotic diseases of plasminogen deficiency in the Japanese: the Suita Study. J Thromb Haemost. 2003 Nov;1(11):2397-2403.14629475
Tefs K, Gueorguieva M, Klammt J, et al. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood. 2006 Nov 1;108(9):3021-3026.16849641

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