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PCCA Gene Propionic acidemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PCCA Gene Propionic acidemia NGS Genetic Test

Short Name: PCCA Gene NGS Test

Also known as: PCCA Gene Sequencing, Propionic Acidemia Genetic Test, PCCA NGS Test

PCCA Gene Propionic acidemia 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

This test is designed to identify genetic mutations in the PCCA gene, which is associated with propionic acidemia, aiding in diagnosis, carrier testing, and genetic counseling.

Test Code
2219
ICD Code
E71.1
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

Complete genetic counseling session and obtain informed consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card for one drop blood.

Step 3

Report Delivery

Store sample appropriately and transport to laboratory under specified conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and family history assessment.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Analysis, interpretation, and report generation.

About This Test

Who Should Get This Test

This test is designed to identify genetic mutations in the PCCA gene, which is associated with propionic acidemia, aiding in diagnosis, carrier testing, and genetic counseling.

How to Prepare

  • Use sterile EDTA tube for blood sample
  • Ensure proper labeling with patient details
  • Handle FTA card carefully to avoid contamination

Doctor's Notes

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

"This test is crucial for early diagnosis and management of propionic acidemia in affected families, aiding in informed family planning and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C
FTA card stable at room temperature for several months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

The test report will indicate whether pathogenic mutations were detected in the PCCA gene, aiding in diagnosis and management.
📊

Positive

One or more pathogenic mutations detected, confirming diagnosis of propionic acidemia.

📊

Negative

No pathogenic mutations detected. However, clinical symptoms may still warrant further investigation.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician immediately if test is positive or if symptoms persist.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions or intronic variants)
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Variant of uncertain significance (VUS) may be reported

Risks & Considerations

  • ●Minimal risk from blood draw (pain, bruising)
  • ●Psychological stress from results
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Sample mix-up or improper labeling
  • ●Technical errors in sequencing or analysis

Compare With Similar Tests

TestPCCA Gene Propionic acidemia NGS Genetic TestBiochemical Testing for Propionic AcidemiaPrenatal Genetic Testing
ComparisonPCCA Gene Propionic acidemia NGS Genetic Test

Frequently Asked Questions

What is propionic acidemia?
Propionic acidemia is a rare genetic disorder that affects the metabolism of certain amino acids and fatty acids, leading to the buildup of toxic substances in the body.
What is the PCCA gene?
The PCCA gene encodes a subunit of the enzyme propionyl-CoA carboxylase, which is essential for breaking down amino acids and fatty acids. Mutations in this gene cause propionic acidemia.
How is propionic acidemia inherited?
Propionic acidemia is inherited in an autosomal recessive pattern, meaning two copies of the mutated gene are needed for the condition to develop.
What are the symptoms of propionic acidemia?
Symptoms include poor feeding, vomiting, lethargy, seizures, developmental delay, enlarged liver, and low blood sugar, often appearing in infancy.
How is propionic acidemia diagnosed?
Diagnosis involves physical examination, blood tests to detect elevated metabolites, and genetic testing like the PCCA Gene NGS test to confirm mutations.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a high-throughput technology that sequences entire genes or genomes to identify genetic mutations with high accuracy.
What does the PCCA Gene NGS test involve?
The test involves collecting a blood or DNA sample, extracting DNA, and sequencing the entire PCCA gene using NGS to detect mutations.
How accurate is the PCCA Gene test?
NGS testing is highly accurate and can detect a wide range of mutations, though no test is 100% foolproof; some variants may be missed.
What is the cost of the test?
The cost of the PCCA Gene Propionic Acidemia NGS Genetic Test at DNA Labs India is INR 20,000, with home collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do after receiving the test results?
Consult a genetic counselor or healthcare provider to interpret results, discuss management options, and consider family testing if needed.
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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