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BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test

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BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test

Short Name: BCHE Gene Deficiency Test

Also known as: Butyrylcholinesterase Deficiency NGS Test, BCHE Mutation Analysis, Pseudocholinesterase Deficiency Test

BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test is to diagnose genetic mutations in the BCHE gene that cause enzyme deficiency, enabling personalized medical management and safe anesthesia use.

Test Code
1897
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with butyrylcholinesterase deficiency.

Method: Phlebotomy or saliva collection

Step 2

Laboratory Analysis

Small sample of blood or saliva is collected using standard phlebotomy or saliva kits.

Step 3

Report Delivery

Sample is processed in the laboratory for NGS analysis. No special post-collection care required.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Sample collection (blood or saliva) sent to lab for NGS analysis.
3
After the Test:Results reviewed with geneticist; personalized recommendations provided.

About This Test

Who Should Get This Test

The purpose of the BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test is to diagnose genetic mutations in the BCHE gene that cause enzyme deficiency, enabling personalized medical management and safe anesthesia use.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples accurately
  • Transport at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early diagnosis of BCHE deficiency is crucial for managing anesthesia sensitivity and preventing adverse reactions during surgery."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for genetic analysis
ContainerEDTA tube for blood, sterile container for DNA
Collection MethodPhlebotomy or saliva collection

Sample Stability

Blood at ambient temperature
Extracted DNA at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Incorrect labeling
  • Sample degradation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BCHE gene, which may affect enzyme function and medication sensitivity.
📊

No mutations detected

Normal enzyme function; low risk for deficiency

📊

Pathogenic mutations detected

Confirm butyrylcholinesterase deficiency; consult genetic counselor for management

📊

Variant of uncertain significance

Further testing or clinical correlation may be needed

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of enzyme deficiencies, experience adverse reactions during anesthesia, or receive abnormal test results for further evaluation and management.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestBCHE Gene Butyrylcholinesterase deficiency NGS Genetic TestAcetylcholinesterase Deficiency TestGeneral Genetic Screening PanelMetabolic Disorder PanelAnesthesia Sensitivity Genetic Test
ComparisonBCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test

Frequently Asked Questions

What is BCHE Gene Butyrylcholinesterase Deficiency?
It is a genetic condition affecting the butyrylcholinesterase enzyme, which breaks down certain drugs used in anesthesia, leading to potential adverse reactions.
Why is the NGS Genetic Test recommended?
The test detects mutations in the BCHE gene to diagnose enzyme deficiency, helping manage anesthesia sensitivity and prevent complications during surgery.
What are the symptoms of this deficiency?
Symptoms may include nausea, vomiting, dizziness, difficulty breathing, irregular heartbeat, or seizures during anesthesia, but some individuals may have no symptoms.
How is the test performed?
A small blood or saliva sample is collected and analyzed using Next-Generation Sequencing technology to identify genetic mutations.
What does the test involve?
It involves DNA analysis of the BCHE gene to detect mutations that affect enzyme production or function.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test available at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the test?
The test costs INR 20000, which includes sample collection and report generation.
Are there any risks associated with the test?
The test has minimal risks, such as slight bruising from blood draw. Genetic counseling is provided to address any concerns.
How can I prepare for the test?
No special preparation is needed. Provide your clinical history and attend a genetic counseling session before testing.
What do the results mean?
Results indicate if pathogenic mutations are present. Normal results suggest low risk, while abnormal results require consultation with a genetic specialist.
Where can I get the test done?
The test is available at DNA Labs India labs or via home collection in cities like Mumbai, Delhi, Bangalore, and others across India.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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