Eurofins Biomnis code

ACTC1

Synonyms

• Complement C1 inhibitor
• C1 - Inh
• C1 esterase inhibitor
• C1 inhibitor activity
• C1 inhibitor functional

Specialty

Immunology

Clinical significance

If C1 inhibitor (more specifically, its esterase activity) is inactive - either because of deficiency or functional impairment - complement is permanently activated via the classic pathway which gives rise to angioneurotic edema, recurrent episodes of edema of the skin and the laryngeal and intestinal mucosae which resolve without leaving any permanent damage to the affected region.In 95% of cases, functional C1 esterase inhibitor deficiency is associated with reduced quantitative levels of the protein but, in some cases, absolute levels can be normal or even high at the same time as C1 inhibitor function is low: this corresponds to the other type of deficiency which can be either hereditary or acquired. Hereditary forms due to functional deficiency are rare.

Preanalytics

• 2 mL Citrated Plasma (centrifugation within 3 hours of sample collection) + 3 mL Serum
•   FROZEN
• Freezing within 4 hours

• A tube specifically for this analysis : No

Methodology

Spectrophotometry + Nephelometry

Turnaround time

3 days (1 week if control)