Antithrombin Gene (SERPINC1)mutation screen

Analysis of the SERPINC1 gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.
Clinical details: 
Heritable antithrombin deficiency is an autosomal dominant disorder caused by mutations in the SERPINC1 gene. Heterozygous deficiency is usually associated with Antithrombin activity levels in the range of 40-60% of normal. Homozygosity is very rare and is often fatal in utero. Deficiencies are characterised as either Type I (a quantitative deficiency) or Type II (a qualitative deficiency). Type II deficiency is then further classified depending on whether the causative mutation affects the reactive site , the heparin binding domain or the reactive loop site. Phenotypic assays for Antithrombin deficiency can be complicated by acute clinical presentation and therapy, and so molecular confirmation of Antithrombin deficiency is of clinical utility.
Reference range: 


Synonyms or keywords: 
SERPINC1 AT Antithrombin deficiency Thrombosis DVT PE
Sample type and Volume required: 
1 x Edta
Call in advance: 
Turnaround time: 
6 weeks
Storage and transport: 
transport at ambient temperature
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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 14/03/2017