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ACHE Gene Acetycholinesterase deficiency NGS Genetic Test

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ACHE Gene Acetycholinesterase deficiency NGS Genetic Test

Short Name: ACHE Gene NGS Test

Also known as: ACHE deficiency genetic test, Acetylcholinesterase gene sequencing, Neurological genetic test

ACHE Gene Acetycholinesterase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To identify genetic mutations in the ACHE gene that cause acetylcholinesterase deficiency, enabling accurate diagnosis of neurological disorders, personalized treatment strategies, and informed genetic counseling for patients and families.

Test Code
1868
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Consult with a healthcare provider or genetic counselor. Provide clinical history and family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture procedure.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and provide informed consent.
2
During the Test:Blood sample collection via venipuncture; no special procedure required during testing.
3
After the Test:Results are analyzed in the lab. A genetic counselor will help interpret findings and discuss next steps.

About This Test

Who Should Get This Test

To identify genetic mutations in the ACHE gene that cause acetylcholinesterase deficiency, enabling accurate diagnosis of neurological disorders, personalized treatment strategies, and informed genetic counseling for patients and families.

How to Prepare

  • Ensure sample is collected in an EDTA tube.
  • Label the sample correctly with patient details.
  • Transport at ambient room temperature to the lab.

Doctor's Notes

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

"Early genetic testing for ACHE deficiency can aid in accurate diagnosis and tailored management of neurological symptoms, especially in family planning contexts."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Stable for 48 hours at room temperature (15-25°C)
For longer storage, refrigerate at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Incorrect sample type or container
  • Missing patient consent or clinical information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ACHE gene. A negative result suggests no known disease-causing variants, while a positive result identifies specific mutations linked to acetylcholinesterase deficiency.
📊

Negative (No pathogenic variants)

No ACHE gene mutations detected. Symptoms may be due to other causes; further clinical evaluation is recommended.

📊

Positive (Pathogenic variant detected)

A mutation in the ACHE gene was identified, confirming genetic acetylcholinesterase deficiency. Consult a neurologist or geneticist for management and family risk assessment.

⚠️ When to Consult a Doctor:

If you experience symptoms like muscle weakness, breathing difficulties, or have a family history of ACHE deficiency. Also, consult after receiving test results for personalized medical advice.

Limitations

  • ⚠May not detect all genetic variants or epigenetic factors
  • ⚠Requires genetic counseling for interpretation
  • ⚠Does not rule out other causes of neurological symptoms

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, slight pain, or infection at puncture site

Interfering Factors

  • ●Contaminated or degraded blood sample
  • ●Previous blood transfusions within 120 days
  • ●Hemolyzed sample

Compare With Similar Tests

TestACHE Gene Acetycholinesterase deficiency NGS Genetic TestEMG (Electromyography)Nerve Conduction Study
ComparisonACHE Gene Acetycholinesterase deficiency NGS Genetic Test

Frequently Asked Questions

What is ACHE Gene Acetylcholinesterase Deficiency?
It is a genetic condition where mutations in the ACHE gene lead to reduced or absent acetylcholinesterase enzyme activity, causing neurological symptoms due to impaired breakdown of acetylcholine.
What are the common symptoms of ACHE deficiency?
Symptoms include muscle weakness, fatigue, difficulty breathing or swallowing, slurred speech, double vision, and delayed motor development, often linked to disorders like myasthenia gravis.
How is ACHE deficiency diagnosed?
Diagnosis involves clinical evaluation, neurological exams, and genetic testing such as NGS to identify mutations in the ACHE gene, alongside tests like EMG or nerve conduction studies.
What is NGS genetic testing?
Next Generation Sequencing (NGS) is an advanced genetic testing method that sequences entire genes or genomes to detect variations, mutations, or disease-causing variants with high accuracy.
What is the cost of the ACHE Gene NGS Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across numerous cities in India.
Is the test covered by insurance?
Genetic testing is often not covered by insurance in India. It is advisable to check with your insurance provider for specific coverage details before undergoing the test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, and will be delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in cities across India, including Mumbai, Delhi, Bangalore, and many more.
What sample is required for the test?
A blood sample (5-10 mL) collected in an EDTA tube via venipuncture is required for the ACHE Gene NGS Genetic Test.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks such as bruising, slight pain, or infection at the puncture site. Genetic testing itself poses no physical risk.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations in the ACHE gene, but it may not identify all genetic variants. Results should be interpreted by a genetic counselor or healthcare provider.
What should I do if I test positive for ACHE deficiency?
If positive, consult a neurologist or geneticist for management options, which may include medication, therapy, and genetic counseling for family planning. Early intervention can help manage symptoms.
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.

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