Butyrylcholinesterase Deficiency via the BCHE Gene
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
The test utilizes Next-Generation Sequencing (NGS) with CNV on either an Exome or Genome platform. It includes coverage of the BCHE gene to detect mutations associated with butyrylcholinesterase deficiency. Exome and Genome platforms offer different specimen requirements, and choice of platform may depend on specific clinical needs.
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.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided