Plasminogen Type 1 Deficiency: PLG Sequencing

Test Identifier Information
Method	Coding regions of exons and flanking intronic sequences of the PLG gene are amplified using PCR and analysed by automated fluorescent bi-directional DNA sequencing.
Diagnostic Use / Indications	PLG deficiency is inherited in an autosomal recessive manner and result from mutations in the PLG gene. Plasminogen (PLG) Type 1 deficiency causes a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Common clinical presentations include ligneous forms of conjunctivitis (80%), gingivitis (34%) and vaginitis (8%). Plasma PLG levels are markedly reduced, however venous thrombosis is not observed. Impaired secretion or increased degradation of mutant PLG protein are common molecular pathogenic mechanisms in type I PLG deficiency.
External Price	$0.00(Exclusive of GST)

Specimen Collection
Patient Specimen	4.0mL EDTA,
Paediatric Specimen	0.5 mL – 1 mL EDTA blood
Sample Delivery to Lab	Ambient

CHLabs Laboratory
Department	Biochemistry - Molecular Pathology
Contact Details	Email This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number	03 3640 548
Test Availability	9am to 5pm, Monday to Friday
Turnaround Time	Within 4 weeks
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.
Additional Information	This test requires nucleated cells. Please do not centrifuge or freeze blood samples. 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. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).