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Laboratory Test Directory

SERPINC1 (AT3) Gene Sequencing

Components

Name Method Department Units
SERPINC1 (AT3) Gene Sequencing Sanger sequencing
Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Clotted specimen
  • Centrifuged specimen
  • Frozen specimen
  • Wrong collection tube

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.

This test is a full gene sequencing analysis of the SERPINC1 gene.

The SERPINC1 gene encodes the antithrombin III protein (AT3). AT3 deficiency (low AT3 level) confers an increased risk for both initial and recurrent venous thrombosis. AT3 deficiency is found in 0.2% of individuals in the general population and 0.5%-4.9% of patients with venous thromboembolism. Familial transmission of AT3 deficiency is known as "hereditary antithrombin deficiency," and it is caused by a presene of a pathogenic variant (mutation) in the SERPINC1 gene. Hereditary antithrombin deficiency is inherited in an autosomal dominant manner and confers 5 to 50-fold increased risk for venous thrombosis. AT3 deficiency may also be acquired, occurring as a result of other conditions, such as liver disease, pregnancy, active thrombosis, sepsis, surgical procedures, disseminated intravascular coagulation, L-asparaginase therapy, nephrotic syndrome, and heparin administration. SERPINC1 gene sequencing may be used to distinguish between hereditary antithrombin deficiency and acquired AT3 deficiency.

Targeted mutation analysis available for other family members when familial mutation is known (see Test Code: FMLIS).

Forms

Lab Form

CPT Code

  • 81479