Skip to main content
DNA Labs India

ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test

Short Name: ACAT1 NGS Test

Also known as: ACAT1 deficiency, Beta-ketothiolase deficiency

ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next Generation SequencingAll 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

To identify pathogenic mutations in the ACAT1 gene that cause methylacetoacetic aciduria, enabling accurate diagnosis, personalized treatment plans, and informed family counseling.

Test Code
2158
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next Generation Sequencing
Step 1

Sample Collection

No fasting required. Genetic counseling is recommended prior to testing to discuss implications and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to review family history, explain test benefits and limitations, and obtain informed consent.
2
During the Test:Blood sample collection, DNA extraction, and next-generation sequencing analysis of the ACAT1 gene.
3
After the Test:Report generation, interpretation by geneticists, and delivery via online portal or other methods. Follow-up counseling may be needed.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the ACAT1 gene that cause methylacetoacetic aciduria, enabling accurate diagnosis, personalized treatment plans, and informed family counseling.

How to Prepare

  • Ensure patient identification is accurate
  • Use aseptic technique to prevent contamination
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early diagnosis through genetic testing can significantly improve management outcomes for metabolic disorders like methylacetoacetic aciduria, especially in families with a history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 ml
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Room temperature48 hours
Refrigerated at 2-8°C7 days
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient blood volume
  • Improperly labeled or unlabeled tubes

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ACAT1 gene, which helps diagnose methylacetoacetic aciduria.
Normal: No pathogenic variants detected, reducing likelihood of the disorder but not excluding carrier status
Abnormal: Pathogenic variants found, confirming diagnosis or carrier status, necessitating further clinical evaluation and management
⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms such as developmental delays, seizures, or jaundice occur, especially with a positive family history or abnormal test results.

Limitations

  • ⚠Detects only known variants in the ACAT1 gene
  • ⚠May not identify all genetic causes of similar symptoms
  • ⚠Requires genetic counseling for proper interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Potential psychological impact from genetic results, requiring support

Interfering Factors

  • ●Sample contamination with external DNA
  • ●Degraded DNA due to improper storage

Compare With Similar Tests

TestACAT1 Gene Methylacetoacetic aciduria NGS Genetic TestOrganic Acidemia NGS PanelACAT1 Gene Sanger SequencingMetabolic Disorder Comprehensive Panel
ComparisonACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test

Frequently Asked Questions

What is ACAT1 Gene Methylacetoacetic aciduria?
It is a rare genetic disorder where mutations in the ACAT1 gene impair the breakdown of fats, leading to harmful substance buildup and symptoms like developmental delays and seizures.
What are the common symptoms of this disorder?
Symptoms include abdominal pain, vomiting, loss of appetite, jaundice, developmental delays, seizures, and coma, varying in severity and onset age.
How is the NGS genetic test performed?
A blood sample is collected, DNA is extracted, and next-generation sequencing is used to analyze the ACAT1 gene for mutations with high sensitivity.
What is the cost of the ACAT1 Gene Test in India?
The test costs INR 20,000 at DNA Labs India, which may include home sample collection and genetic counseling.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across major cities in India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks and can be accessed online, via email, or WhatsApp.
Is the genetic test accurate for diagnosis?
NGS is highly sensitive and can detect most pathogenic mutations, but it may not identify all variants; genetic counseling is recommended for interpretation.
Who should consider getting this genetic test?
Individuals with symptoms of metabolic disorders, a family history of ACAT1 deficiency, or those planning a family with known carrier status.
Can this test be done during pregnancy?
Yes, for carrier screening or prenatal diagnosis, but it requires specialized genetic counseling and may involve additional procedures like amniocentesis.
What should I do if the test result is positive?
Consult a geneticist or metabolic specialist for further evaluation, dietary management, and emergency care plans to prevent metabolic crises.
Are there any risks associated with the genetic test?
The test involves minimal risks from blood draw, such as bruising; psychological impact is possible, so genetic counseling is advised.
How can I book the ACAT1 Gene Test?
You can book online through DNA Labs India's website, contact via phone or WhatsApp, or visit a walk-in center with prior appointment.
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.

Related Tests

SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test

₹20,000

Comprehensive Ear Nose Throat Panel NGS Genetic Test

₹20,000

ATAC Sequencing

₹48,000

PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test

₹20,000

IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test

₹20,000

Clinical Exome Next Generation Sequencing Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.