Test Catalog

Molecular Diagnosis of Congenital Coagulopathies by NGS: Plasminogen Deficiency

Code: 70811

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Identifying the molecular defect in the PLG gene in patients diagnosed with Plasminogen Deficiency.

Plasminogen Deficiency

Plasminogen Deficiency is a rare disorder caused by a reduction in plasminogen activity and levels (type I deficiency) or by a reduction in activity with normal or slightly reduced levels (type II deficiency). Type I deficiency is clinically characterized by the appearance of pseudomembranes on mucous surfaces, such as ligneous conjunctivitis, with a prevalence of 1-9/1,000,000. Type II deficiency is usually asymptomatic. It affects both men and women. Individuals with this disease usually do not exhibit abnormal bleeding manifestations.

Plasminogen deficiency is inherited in an autosomal recessive manner and is caused by mutations in the PLG gene, which encodes for plasminogen.

Amplification through long PCRs of the entire plasminogen gene (PLG), including exons, introns, and the promoter region, for fragmentation and sequencing using next-generation sequencing (NGS) techniques.

Method:

Next-generation sequencing of the exons and flanking intronic regions of PLG.

Sanger traditional sequencing to confirm the detected mutation(s) in patients diagnosed with PD, in order to reach an unequivocal result, analyzing the specific region where the variant is located.

If no potential or definitive mutation potentially causing the pathology is identified, it will be reported and discussed with the requesting medical team the possibility of performing complementary studies.

Reference Values

N/A

Diagnostic Algorithm:

N/A

Turnaround Time:

30 working days

Specimen information

Sample: Whole blood
Tube: EDTA K3 tube 5-10 ml if it is a blood sample
Minimum required volume: 3 ml

Stability:

  • At room temperature: 4 days
  • In refrigeration: 10 days

Transport instructions: Preferably at room temperature

Reasons for rejection: Coagulated sample and/or incorrectly identified.

Other accepted sample types:

  • Purified DNA, minimum 300 ng (30 ng/µL)
  • Oral mucosa: contact the laboratory for sample collection specifications.

Administrative information

BST Code: LRD2833
Test Description: Molecular diagnosis of congenital coagulopathies by NGS: Plasminogen deficiency
Synonyms: Genetic study of plasminogen deficiency, molecular study of plasminogen deficiency, sequencing of PLG.
Section: Congenital Coagulopathies
BST Fee: Check the updated fees here.

In the molecular study request form, the Others box must be checked, specify that PLG study is requested, and fill in the available phenotypic data.

Profiles:

N/A.

References

  • Peter J Hulick. Next-generation DNA sequencing (NGS): Principles and clinical Applications. Waltham, MA: UpToDate Inc. https://www.uptodate.com.
  • DNA Sequencing by Capillary Electrophoresis. Applied Biosystems Chemistry Guide. Second Edition.
  • Martin-Fernandez L, Marco P, Corrales I, Pérez R, Ramírez L3, López S, Vidal F, Soria JM. The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. Sci Rep. 2016;6:39255.

Base de dades de mutacions