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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFactor II deficiency, Prothrombin mutation; Thrombophilia

Request form illness

Summary

Short information

2 curated single gene sequence analyses according to the clinical suspicion Factor II deficiency, Thrombin defect, thrombophilia

ID
FS0020
Number of genes
1 Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
F21869NM_000506.5AD, AR

Informations about the disease

Clinical Comment

Bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms

 

Synonyms
  • Alias: Thrombophilia due to thrombin defect (F2)
  • Allelic: Congenital factor II deficiency (F2)
  • Allelic: Dysprothrombinemia (F2)
  • Allelic: Hypoprothrombinemia (F2)
  • Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Allelic: Prothrombin deficiency (F2)
  • Allelic: Stroke, ischemic, susceptibility to (F2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined