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DNA Labs India

CAT Gene Acatalasemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CAT Gene Acatalasemia NGS Genetic Test

Short Name: CAT Gene Test

Also known as: Catalase Deficiency Test, CAT Gene Sequencing, Acatalasemia Genetic Analysis

CAT Gene Acatalasemia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 acatalasemia by sequencing the CAT gene and identifying pathogenic mutations, aiding in clinical management and genetic counseling.

Test Code
1864
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
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended and informed consent obtained.

Method: Standard phlebotomy or FTA card

Step 2

Laboratory Analysis

Standard blood draw using sterile techniques or collection on FTA card.

Step 3

Report Delivery

Sample labeled properly and sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Wait for report and follow-up with genetic counselor or physician.

About This Test

Who Should Get This Test

To diagnose acatalasemia by sequencing the CAT gene and identifying pathogenic mutations, aiding in clinical management and genetic counseling.

How to Prepare

  • Avoid eating or drinking if required for sample integrity
  • Ensure proper labeling with patient details
  • Follow aseptic techniques to prevent contamination

Doctor's Notes

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

"This test is crucial for diagnosing acatalasemia, enabling early management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodStandard phlebotomy or FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods at room temperature
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate whether pathogenic mutations in the CAT gene are detected, confirming or ruling out acatalasemia.
Positive result: Mutations detected, consistent with acatalasemia diagnosis
Negative result: No mutations detected, but clinical correlation needed for symptoms
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of acatalasemia, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may be reported
  • ⚠Does not assess enzyme activity directly
  • ⚠Limited to known pathogenic variants in databases

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Potential psychological impact from positive results
  • ●No significant physical risks from testing

Interfering Factors

  • ●Degraded DNA samples
  • ●Contamination during sample processing
  • ●Hemolyzed blood samples
  • ●Improper sample storage

Compare With Similar Tests

TestCAT Gene Acatalasemia NGS Genetic TestCatalase Enzyme Activity AssayWhole Exome Sequencing
ComparisonCAT Gene Acatalasemia NGS Genetic TestLess definitive than genetic testing; may miss residual activity in some individualsBroader but more expensive; targets all genes, not specific to CAT

Frequently Asked Questions

What is CAT gene acatalasemia?
It is a rare genetic disorder caused by mutations in the CAT gene, leading to deficient catalase enzyme activity and symptoms like oral ulcers and delayed wound healing.
How is acatalasemia inherited?
Acatalasemia follows an autosomal recessive pattern, meaning an individual must inherit two mutated gene copies, one from each parent, to develop the condition.
What are the common symptoms of acatalasemia?
Symptoms include oral ulcers, gingivitis, periodontitis, abdominal pain, diarrhea, hyperhidrosis (excessive sweating), and delayed wound healing.
How is acatalasemia diagnosed?
Diagnosis involves clinical evaluation, enzyme activity assays, and genetic testing such as NGS of the CAT gene for definitive confirmation.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a technology that sequences entire genes or genomes to identify mutations associated with genetic disorders like acatalasemia.
What does the CAT gene NGS test involve?
The test involves sequencing the CAT gene from a blood or DNA sample to detect mutations, with results indicating pathogenic variants.
What is the cost of the CAT gene acatalasemia test in India?
The cost is approximately INR 20000 at DNA Labs India, with special discounts and free home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across major cities in India.
How long does it take to get the test results?
Reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What should I do before the test?
Genetic counseling is recommended to discuss the test implications, and provide clinical history and family pedigree.
What do the test results mean?
Results may show positive (mutations detected), negative (no mutations), or variants of uncertain significance, requiring further interpretation by a healthcare professional.
Who should consider getting this test?
Individuals with symptoms of acatalasemia, a family history of the condition, or those recommended by a physician for genetic diagnosis.
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.

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.

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