BCHE Gene Butyrylcholinesterase Deficiency NGS Genetic DNA Test
Understanding Butyrylcholinesterase Deficiency
Butyrylcholinesterase deficiency is an inherited metabolic condition that affects the body’s ability to break down certain medications, particularly muscle relaxants used during surgical procedures. This genetic disorder results from mutations in the BCHE gene, which provides instructions for producing the butyrylcholinesterase enzyme. When this enzyme functions improperly, patients may experience prolonged paralysis and respiratory depression after receiving specific anesthetic agents.
What This Test Detects
The BCHE Gene Butyrylcholinesterase Deficiency NGS Genetic DNA Test utilizes advanced Next-Generation Sequencing technology to identify mutations in the BCHE gene. This comprehensive analysis examines:
- Point mutations affecting enzyme function
- Gene deletions or duplications
- Single nucleotide polymorphisms (SNPs)
- Structural variations in the BCHE gene
- Inheritance patterns of identified variants
Who Should Consider This Test
This genetic test is particularly important for individuals who:
- Have experienced prolonged recovery from anesthesia
- Have family members with documented butyrylcholinesterase deficiency
- Are planning elective surgical procedures
- Have unexplained respiratory complications following surgery
- Show sensitivity to succinylcholine or other muscle relaxants
- Have a family history of anesthesia-related complications
Clinical Benefits of Testing
Understanding your BCHE gene status provides numerous clinical advantages:
- Personalized Anesthesia Planning: Enables anesthesiologists to select appropriate medications and dosages
- Risk Reduction: Minimizes the chance of prolonged paralysis during surgery
- Family Screening: Identifies at-risk relatives who may benefit from testing
- Surgical Safety: Enhances overall surgical safety and recovery outcomes
- Informed Medical Decisions: Provides crucial information for future medical procedures
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Normal Result: No significant mutations detected in the BCHE gene
- Carrier Status: One copy of a mutated gene, typically asymptomatic
- Affected Status: Two mutated copies, indicating butyrylcholinesterase deficiency
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact
All results include detailed interpretation by our genetic specialists and recommendations for clinical management.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Surgical Safety
Don’t leave your surgical safety to chance. The BCHE Gene Butyrylcholinesterase Deficiency NGS Genetic DNA Test provides essential information that could significantly impact your medical care and surgical outcomes. Our genetic counselors are available to discuss your results and provide personalized recommendations.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward personalized medical care and enhanced surgical safety.
