PROC mutation screen
Description:
Analysis of the PROC gene by PCR amplification and sequencing of the coding region, splice junctions and promoter region. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.
Clinical details:
Protein C is one of the body's natural anticoagulants and its deficiency leads to an increased risk of thrombophilia. Most affected individuals are heterozygous and have mild Protein C deficiency (autosomal dominant) - approximately 1:200-500 individuals. The absolute risk of thrombosis is variable and affected by other genetic e.g. Factor V Leiden and / or environmental e.g. surgery risk factors. True autosomal recessive Protein C deficiency is very rare, <1:1000000, and results in life-threatening neonatal purpura fulminans.
Mutations are heterogeneous and can cause Type I Quantitative (most common) or Type II Qualitative defects.
Protein C deficiency can be difficult to diagnose in the immediate aftermath of a thrombotic event or if a patient is on anticoagulant therapy. Molecular analysis can provide a definitive diagnosis and allow family studies.
Mutations are heterogeneous and can cause Type I Quantitative (most common) or Type II Qualitative defects.
Protein C deficiency can be difficult to diagnose in the immediate aftermath of a thrombotic event or if a patient is on anticoagulant therapy. Molecular analysis can provide a definitive diagnosis and allow family studies.
Reference range:
n/a
Synonyms or keywords:
PROC
Protein C deficiency
Thrombophilia
Thrombosis
DVT
PE
Units:
n/a
Department:
Location:
Sample type and Volume required:
1 x Edta
Call in advance:
no
Turnaround time:
6 weeks
Storage and transport:
transport at ambient temperature
Contacts:
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday - Friday 09.00 - 17.00
Laboratory:
Last updated: 14/03/2017
