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CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic Test

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CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic Test

Short Name: CPT2 Deficiency NGS Genetic Test

Also known as: CPT2 Deficiency, Lethal Neonatal CPT2 Deficiency

CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal 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.

Next-Generation Sequencing (NGS)🏠 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 mutations in the CPT2 gene responsible for carnitine palmitoyltransferase 2 deficiency, aiding in diagnosis, management, and genetic counseling for affected individuals and families.

Test Code
1903
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

Clinical history review and genetic counseling are recommended. Ensure patient or guardian provides informed consent.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or fingerstick into an EDTA tube or FTA card.

Step 3

Report Delivery

Sample is labeled, processed, and analyzed using NGS technology for mutation detection.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Review clinical history and undergo genetic counseling. No specific preparation needed.
2
During the Test:Blood sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Sample is sent to the lab for NGS analysis. Results are delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the CPT2 gene responsible for carnitine palmitoyltransferase 2 deficiency, aiding in diagnosis, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Fasting not required
  • Use appropriate container (EDTA tube or FTA card)
  • Ensure proper patient identification and labeling
  • Store at ambient room temperature if not processed immediately

Doctor's Notes

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

"Early genetic testing for CPT2 deficiency is essential in neonates to identify metabolic disorders and guide management, preventing severe complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: stable at room temperature for up to 24 hours
Extracted DNA: stable at -20°C for long-term storage
FTA card samples: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Improper container or labeling
  • Sample contamination or degradation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CPT2 gene, which are associated with carnitine palmitoyltransferase 2 deficiency.
Positive Result: Pathogenic mutation detected, confirming diagnosis of CPT2 deficiency. Clinical correlation and genetic counseling recommended.
Negative Result: No pathogenic mutations detected. Does not rule out other causes; clinical evaluation needed.
Variant of Uncertain Significance (VUS): Genetic variant found but not clearly pathogenic. Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

If symptoms of CPT2 deficiency are present, such as muscle weakness or hypoglycemia, or if family history suggests risk, consult a geneticist or metabolic specialist for interpretation and management.

Limitations

  • ⚠Only detects mutations in the CPT2 gene
  • ⚠Does not assess other metabolic disorders
  • ⚠May not detect all types of genetic variants, such as large deletions

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Hemolyzed or clotted blood samples
  • ●Improper sample storage or transport
  • ●DNA degradation due to environmental factors

Frequently Asked Questions

What is CPT2 gene carnitine palmitoyltransferase 2 deficiency?
It is a rare genetic disorder caused by mutations in the CPT2 gene, leading to impaired fat metabolism and potentially severe symptoms like muscle weakness, hypoglycemia, and cardiac issues.
What are the symptoms of lethal neonatal CPT2 deficiency?
Symptoms can include severe hypoglycemia, muscle weakness, enlarged liver, heart problems, seizures, coma, and in fatal cases, death in newborns.
How is CPT2 deficiency diagnosed?
Diagnosis involves clinical evaluation, family history, and confirmatory genetic testing using NGS to detect mutations in the CPT2 gene.
What does the genetic test involve?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample, identifying mutations in the CPT2 gene associated with the deficiency.
What is the cost of the CPT2 gene genetic test at DNA Labs India?
The cost is INR 20,000, which includes sample collection, testing, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the CPT2 gene, confirming a diagnosis of CPT2 deficiency. Genetic counseling is recommended.
Can CPT2 deficiency be treated?
While there is no cure, management includes dietary modifications, avoiding fasting, and supportive care to prevent metabolic crises. Early diagnosis is key.
Is CPT2 deficiency hereditary?
Yes, it is an autosomal recessive disorder, meaning both parents must carry the gene mutation for a child to be affected.
Are there any risks associated with the genetic test?
The test involves a standard blood draw, with minimal risks such as bruising or discomfort. No significant medical risks are involved.
How should I prepare for the test?
No fasting is required. Provide a detailed clinical history and undergo genetic counseling to understand the implications of testing.
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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