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CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test

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CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test

Short Name: CA5A Gene NGS Test

Also known as: CA5A Deficiency, Carbonic Anhydrase VA Deficiency

CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, One drop Blood on FTA Card samples. Results in 3-4 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

To diagnose CA5A gene mutations causing hyperammonemia due to Carbonic Anhydrase VA Deficiency, enabling early intervention and management.

Test Code
4699
Price
₹20,000
Sample Type
Blood, Extracted DNA, One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and family pedigree. Genetic counseling session recommended.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample drawn by trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising. Store sample as instructed.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to discuss implications, benefits, and limitations of testing.
2
During the Test:Sample analysis performed in an accredited laboratory using NGS technology.
3
After the Test:Report interpretation by a geneticist or qualified healthcare provider.

About This Test

Who Should Get This Test

To diagnose CA5A gene mutations causing hyperammonemia due to Carbonic Anhydrase VA Deficiency, enabling early intervention and management.

How to Prepare

  • Avoid strenuous activity before sample collection
  • Ensure proper labeling of samples
  • Follow fasting instructions if specified by physician

Doctor's Notes

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

"Early genetic testing for CA5A deficiency is crucial for managing hyperammonemia and preventing neurological damage in affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: 48 hours at 2-8°C
DNA: Stable at room temperature for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CA5A gene.
📊

Positive for pathogenic mutation

Confirms diagnosis of CA5A deficiency. Clinical correlation and genetic counseling advised.

📊

Negative for mutation

No pathogenic variants detected. Consider other causes if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of hyperammonemia appear, such as lethargy, vomiting, seizures, or developmental delays, consult a geneticist or metabolic specialist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires correlation with clinical symptoms
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestCA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test
ComparisonCA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test

Frequently Asked Questions

What is CA5A Gene Hyperammonemia?
It is a rare genetic disorder caused by mutations in the CA5A gene, leading to deficiency of Carbonic Anhydrase VA enzyme and elevated ammonia levels in the blood.
What are the symptoms of CA5A deficiency?
Symptoms include developmental delay, seizures, decreased muscle tone, feeding difficulties, and progressive neurological deterioration.
How is CA5A deficiency diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS) of the CA5A gene.
What is the cost of the CA5A Gene NGS Genetic Test?
The test costs INR 20,000 in India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3-4 weeks after sample collection.
What treatment options are available for CA5A deficiency?
Treatment may include dietary management, medications to reduce ammonia levels, and in severe cases, liver transplantation.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the implications, benefits, and limitations of the test.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, including children and infants.
What is the accuracy of NGS genetic testing?
NGS is highly accurate for detecting genetic mutations, but results should be correlated with clinical symptoms and family history.
Are there any risks associated with the test?
Risks are minimal and mainly related to blood draw, such as bruising or infection. Psychological impact of results is also possible.
How can I book the test?
You can book the test online through DNA Labs India's website or by contacting their customer service for assistance.
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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