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OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency NGS Genetic Test

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OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency NGS Genetic Test

Short Name: OXCT1 Deficiency NGS Test

Also known as: OXCT1 deficiency, Succinyl-CoA:3-oxoacid CoA transferase deficiency, SCOT deficiency

OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase 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 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

The purpose of this test is to diagnose Succinyl CoA:3-oxoacid CoA transferase deficiency by identifying mutations in the OXCT1 gene. It helps in confirming the clinical diagnosis, guiding treatment decisions, and providing information for genetic counseling.

Test Code
2245
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. Genetic counseling recommended prior to testing.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a drop of blood on an FTA card.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to understand the test and implications. Provide clinical history.
2
During the Test:Sample collection and analysis in the laboratory.
3
After the Test:Receive report and follow up with a healthcare professional for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Succinyl CoA:3-oxoacid CoA transferase deficiency by identifying mutations in the OXCT1 gene. It helps in confirming the clinical diagnosis, guiding treatment decisions, and providing information for genetic counseling.

How to Prepare

  • Ensure proper identification of the patient.
  • Use sterile equipment.
  • Label samples correctly.

Doctor's Notes

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

"Genetic testing for OXCT1 deficiency is essential for early intervention and family planning. Consult a genetic counselor for personalized advice."

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 FTA card collection

Sample Stability

Blood samples stable for 7 days at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated samples
  • Improperly labeled samples

Understanding Your Results

Results indicate whether pathogenic mutations are present in the OXCT1 gene. Positive results confirm the diagnosis, while negative results may require further investigation.
Positive: Pathogenic variant detected, confirmatory for OXCT1 deficiency.
Negative: No pathogenic variants detected, but clinical correlation is needed.
Variant of uncertain significance (VUS): Requires additional testing and counseling.
⚠️ When to Consult a Doctor:

If you experience symptoms of metabolic disorder, have a family history of OXCT1 deficiency, or receive a positive test result, consult a geneticist or metabolic specialist immediately.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not rule out other metabolic disorders

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of results
  • ●Potential for incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency?
It is a rare genetic metabolic disorder caused by mutations in the OXCT1 gene, affecting the body's ability to process certain fats and proteins, leading to harmful substance buildup.
What are the symptoms of this disorder?
Symptoms include developmental delays, feeding difficulties, low muscle tone, seizures, and vomiting. They can vary among individuals.
How is the deficiency diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test offered by DNA Labs India, which analyzes the OXCT1 gene for mutations.
What is the cost of the NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What samples are required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do if I have a positive test result?
Consult a geneticist or metabolic specialist immediately for management, genetic counseling, and family planning advice.
Can this test be done for children?
Yes, the test is suitable for all ages, including children, especially if they show symptoms or have a family history.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider. Government schemes like PMJAY or CGHS may not cover it; verify with authorities.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting mutations in the OXCT1 gene, but results should be interpreted by a qualified geneticist.
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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