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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessProtein S deficiency; thrombophilia

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Protein S deficiency; thrombophilia

ID
PS6541
Number of genes
1 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
PROS12031NM_000313.4AD, AR

Informations about the disease

Clinical Comment

Recurrent venous thrombosis symptoms due to reduced synthesis activity of protein S.

 

Synonyms
  • Severe hereditary thrombophilia due to congenital protein S deficiency
  • Thrombophilia due to protein S deficiency, AD (PROS1)
  • Thrombophilia due to protein S deficiency, AR (PROS1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined