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CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test

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CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test

Short Name: CPT1A Deficiency NGS Test

Also known as: CPT1A deficiency test, Carnitine palmitoyltransferase 1A genetic test, CPT1A gene sequencing test

CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

NGS 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

To diagnose Carnitine palmitoyltransferase 1A deficiency by identifying mutations in the CPT1A gene using NGS technology, enabling early intervention and management.

Test Code
1901
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required; however, genetic counseling is advised to discuss implications.

Method: Venipuncture for blood, swab for saliva

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a saliva swab is collected, with one drop on FTA card as an alternative.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; sample is processed for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to draw a family pedigree chart and discuss test implications.
2
During the Test:Sample collection (blood or saliva) and submission for NGS analysis.
3
After the Test:Report generation and delivery, followed by genetic counseling for interpretation.

About This Test

Who Should Get This Test

To diagnose Carnitine palmitoyltransferase 1A deficiency by identifying mutations in the CPT1A gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure sample is collected in appropriate container (EDTA tube or FTA card)
  • Label sample correctly with patient details
  • Transport sample at ambient room temperature to lab promptly

Doctor's Notes

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

"This test is essential for diagnosing CPT1A deficiency, particularly in families with metabolic disorder history, enabling early management and genetic counseling."

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 NGS
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, swab for saliva

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for extended periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood
  • Incorrect sample type or container
  • Missing patient information

Understanding Your Results

Results indicate whether pathogenic mutations in the CPT1A gene are present, aiding in the diagnosis of CPT1A deficiency.
📊

Negative

No pathogenic variants detected; symptoms may be due to other causes, but clinical evaluation continues.

📊

Positive

Pathogenic variants identified; confirms CPT1A deficiency, requiring metabolic management and family screening.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms persist, if positive result is received, or for family planning and genetic counseling.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires clinical correlation and genetic counseling
  • ⚠Does not assess enzyme activity directly

Risks & Considerations

  • ●Minimal risks from blood draw, such as pain or bruising
  • ●Psychological impact of genetic results, mitigated by counseling

Interfering Factors

  • ●Hemolyzed or contaminated blood samples
  • ●Degraded DNA from improper storage
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestCPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic TestCPT2 Gene TestMCAD Deficiency TestFatty Acid Oxidation Panel
ComparisonCPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test

Frequently Asked Questions

What is CPT1A deficiency?
CPT1A deficiency is a rare genetic disorder where the body cannot properly break down fatty acids for energy due to mutations in the CPT1A gene, leading to symptoms like low blood sugar and muscle weakness.
What are the symptoms of CPT1A deficiency?
Symptoms include low blood sugar levels, enlarged liver, muscle weakness, fatigue, nausea, vomiting, and abdominal pain, which can worsen during fasting or illness.
How is CPT1A deficiency diagnosed?
Diagnosis is confirmed through a Next-Generation Sequencing (NGS) genetic test that identifies mutations in the CPT1A gene from a blood or saliva sample.
What is the cost of the CPT1A gene NGS test at DNA Labs India?
The test costs INR 20,000, with home sample collection available at no extra charge across India.
Is the CPT1A genetic test covered by insurance?
Typically, this test is not covered by insurance, but it's advisable to check with your provider for specific coverage options.
How long does it take to get the test results?
Results are usually available within 3 to 4 weeks and can be accessed online, via email, or WhatsApp.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What are the treatment options for CPT1A deficiency?
Treatment focuses on managing symptoms through a high-carbohydrate, low-fat diet, avoiding fasting, and emergency protocols during illness, under medical guidance.
Can CPT1A deficiency be prevented?
As a genetic condition, it cannot be prevented, but early diagnosis and management can prevent complications and improve quality of life.
What is the role of genetic counseling for this test?
Genetic counseling helps interpret results, understand inheritance patterns, and guide family planning or management decisions.
How accurate is the NGS genetic test for CPT1A deficiency?
NGS technology is highly accurate in detecting pathogenic variants in the CPT1A gene, though it may not identify all rare mutations, and results should be correlated clinically.
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

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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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