Butyrylcholinesterase Deficiency via the BCHE Gene

Clinical Use

Use

This test is intended for individuals with a clinical or suspected diagnosis of butyrylcholinesterase deficiency, particularly those with increased sensitivity to muscle relaxants like suxamethonium or mivacurium. It is also useful for reproductive partners of individuals with known pathogenic or likely pathogenic variants in the BCHE gene, aiding in risk assessment and genetic counseling.

Special Instructions

Not provided.

Limitations

While highly comprehensive, the test may still miss rare deletions, duplications, or mutations outside of the covered regions in the BCHE gene. Negative results do not rule out other potential genetic causes for clinical symptoms. Interpretation of variants may be limited by the availability of detailed clinical information and family history.

Test Details