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SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic Test

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SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic Test

Short Name: Carnitine-acylcarnitine translocase deficiency NGS Test

Also known as: CACT deficiency, SLC25A20 deficiency, Carnitine-acylcarnitine translocase deficiency

SLC25A20 Gene Carnitine-acylcarnitine translocase 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.

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 pathogenic mutations in the SLC25A20 gene for the diagnosis of carnitine-acylcarnitine translocase deficiency, enabling early treatment, genetic counseling, and family planning.

Test Code
1905
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

A genetic counseling session is recommended to discuss test implications and draw a pedigree chart of affected family members.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or finger-prick on FTA card, which is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. No special aftercare is needed, but follow any lab instructions for sample transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Understand the test purpose and implications. Arrange for genetic counseling if possible.
2
During the Test:Sample collection takes a few minutes. The test itself is laboratory-based with no direct patient involvement.
3
After the Test:Wait for results, which will be available in 3-4 weeks. Follow up with your healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SLC25A20 gene for the diagnosis of carnitine-acylcarnitine translocase deficiency, enabling early treatment, genetic counseling, and family planning.

How to Prepare

  • Fasting is not required
  • Collect sample in EDTA tube or on FTA card
  • Store at ambient room temperature
  • Transport to lab promptly to avoid sample degradation

Doctor's Notes

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

"Early genetic testing for SLC25A20 deficiency can lead to timely management and improved outcomes, especially in children with metabolic symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for several days if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Improper labeling or identification

Understanding Your Results

Results indicate whether pathogenic mutations in the SLC25A20 gene are detected, which helps confirm or rule out carnitine-acylcarnitine translocase deficiency.
📊

No pathogenic variants detected

Low likelihood of CACT deficiency, but clinical correlation and further testing may be needed if symptoms persist.

📊

Pathogenic variants detected

Confirms diagnosis of CACT deficiency. Immediate medical management and genetic counseling are recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms such as hypoglycemia, hepatomegaly, or developmental delays are present, or if the test results indicate mutations.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠False negatives possible in rare cases due to technical limitations

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the puncture site
  • ●Psychological impact of genetic results, requiring counseling

Interfering Factors

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

Compare With Similar Tests

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ComparisonSLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic Test

Frequently Asked Questions

What is SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency?
It is a rare inherited metabolic disorder caused by mutations in the SLC25A20 gene, affecting the transport of fatty acids into mitochondria for energy production.
What are the common symptoms of this disorder?
Symptoms include low blood sugar, enlarged liver or heart, poor growth, muscle weakness, developmental delays, and seizures.
How is CACT deficiency diagnosed?
Diagnosis is through genetic testing, such as the NGS Genetic Test, which identifies mutations in the SLC25A20 gene.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the SLC25A20 gene from a blood sample for mutations.
Is the test painful?
The test involves a blood draw, which may cause minor discomfort, but it is generally quick and well-tolerated.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, which includes home sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
Can the test be done on newborns?
Yes, the test can be performed on individuals of all ages, including newborns, if clinically indicated.
What if the test shows a mutation?
If pathogenic mutations are detected, it confirms CACT deficiency. Consult a geneticist for management and genetic counseling.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and plan further steps.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic results may have psychological impacts, so counseling is advised.
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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