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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
PROS1 | 2031 | NM_000313.4 | AD, 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
D68.5
Bioinformatics and clinical interpretation
No text defined