Skip to main content
DNA Labs India

PCCB Gene Propionic acidemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PCCB Gene Propionic acidemia NGS Genetic Test

Short Name: PCCB Gene Propionic Acidemia Test

Also known as: PCCB Mutation Analysis, Propionic Acidemia Genetic Screening

PCCB 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 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 detect mutations in the PCCB gene that cause propionic acidemia, aiding in accurate diagnosis, carrier identification, and genetic counseling.

Test Code
2222
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

Patient should provide detailed clinical history and undergo genetic counseling. A pedigree chart of family members affected with propionic acidemia is recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture. For FTA card option, a drop of blood is applied and dried.

Step 3

Report Delivery

The sample is processed for DNA extraction and analyzed using NGS technology.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide clinical history. No fasting is required unless specified by the physician.
2
During the Test:A blood sample is collected via venipuncture or using an FTA card, and sent for analysis.
3
After the Test:Wait for the report in 3 to 4 weeks and follow up with the genetic counselor for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the PCCB gene that cause propionic acidemia, aiding in accurate diagnosis, carrier identification, and genetic counseling.

How to Prepare

  • Bring identification and doctor's prescription if available
  • Inform the lab about any medications or medical conditions
  • Ensure proper labeling of the sample

Doctor's Notes

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

"Genetic testing for propionic acidemia is crucial for early diagnosis, management, and family planning, especially in high-risk families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples are stable at ambient temperature for up to 24 hours
Extracted DNA can be stored at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PCCB gene, which are associated with propionic acidemia.
No pathogenic variants detected: Negative result, no evidence of PCCB gene mutations causing propionic acidemia.
Pathogenic variant detected: Positive result, confirms diagnosis of propionic acidemia due to PCCB gene mutation.
Variant of uncertain significance (VUS): Further testing, family studies, or clinical correlation may be required.
⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if the test is positive for mutations, or if symptoms suggestive of propionic acidemia are present.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Does not assess other genes involved in propionic acidemia, like PCCA
  • ⚠Results should be interpreted in conjunction with clinical findings and family history

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, pain, or infection at the collection site
  • ●Genetic test results may have psychological or emotional impact; counseling is recommended

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage
  • ●Insufficient sample volume

Compare With Similar Tests

TestPCCB Gene Propionic acidemia NGS Genetic TestPCCA Gene TestOrganic Acid AnalysisNewborn ScreeningAmino Acid Profile
ComparisonPCCB Gene Propionic acidemia NGS Genetic Test

Frequently Asked Questions

What is the PCCB Gene Propionic Acidemia NGS Genetic Test?
This test uses Next-Generation Sequencing to analyze the PCCB gene for mutations that cause propionic acidemia, a rare metabolic disorder.
Why is this test recommended?
It is recommended for diagnosing propionic acidemia, identifying carriers, aiding in family planning, or confirming clinical suspicion based on symptoms.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the entire coding region of the PCCB gene.
What are the symptoms of propionic acidemia?
Symptoms include poor feeding, vomiting, lethargy, hypotonia, developmental delay, seizures, and coma. Without treatment, it can lead to metabolic crises.
How much does the test cost?
The test costs INR 20,000 and includes genetic counseling and a detailed report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India, with service in many cities.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks, and can be accessed via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result indicates pathogenic mutations in the PCCB gene, confirming a diagnosis of propionic acidemia.
Can this test detect carriers of propionic acidemia?
Yes, the test can identify individuals who carry one mutated copy of the PCCB gene, which is useful for carrier testing.
What preparation is needed before the test?
Provide your clinical history, undergo genetic counseling, and bring any relevant medical records or family history information.
Are there any risks associated with the test?
Risks are minimal, limited to blood draw complications like bruising or infection. Genetic counseling is provided to address any concerns.
How accurate is the test?
The test uses advanced NGS technology, providing highly accurate results for detecting mutations in the PCCB gene, but it may not detect all mutation types.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.