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

IllnessProtein C deficiency; thrombophilia

Request form illness

Summary

Short information

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

ID
PS6540
Number of genes
1 Accredited laboratory test
Examined sequence length
1,4 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
PROC1386NM_000312.4AD, AR

Informations about the disease

Clinical Comment

Deep venous thrombosis due to reduced synthesis and/or activity levels of protein C.

 

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

Bioinformatics and clinical interpretation

No text defined