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PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic Test

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PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic Test

Also known as: IBGC5, Idiopathic Basal Ganglia Calcification Type 5

PDGFB Gene Basal ganglia calcification type 5, idiopathic 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.

Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the PDGFB gene associated with basal ganglia calcification type 5, confirming diagnosis and identifying carriers for genetic counseling and risk assessment.

Test Code
5670
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected.

Method: Venipuncture or Blood Drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site; no special care needed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected.
2
During the Test:Blood sample collected via venipuncture or blood drop on FTA card using sterile equipment.
3
After the Test:Apply pressure to the puncture site; no special care needed.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PDGFB gene associated with basal ganglia calcification type 5, confirming diagnosis and identifying carriers for genetic counseling and risk assessment.

How to Prepare

  • Fasting not required
  • Use sterile collection equipment
  • Label sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PDGFB gene mutations is essential for confirming basal ganglia calcification type 5 and informing treatment strategies."

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 Blood Drop

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
FTA card: Store at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

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

Positive for pathogenic mutation

Confirms diagnosis of basal ganglia calcification type 5; genetic counseling recommended.

📊

Negative for pathogenic mutation

Reduces likelihood of IBGC5 but does not rule out other causes; clinical correlation advised.

⚠️ When to Consult a Doctor:

If symptoms persist, worsen, or if there is a family history of the disorder, consult a geneticist or neurologist for further evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection

Interfering Factors

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

Frequently Asked Questions

What is basal ganglia calcification type 5 (IBGC5)?
IBGC5 is a rare genetic disorder causing calcium deposits in the basal ganglia, leading to neurological symptoms like movement disorders and cognitive impairment.
What causes IBGC5?
IBGC5 is caused by mutations in the PDGFB gene, which is involved in cell growth and development.
What are the common symptoms of IBGC5?
Symptoms include movement disorders (e.g., dystonia), cognitive impairment, psychiatric issues, seizures, headaches, and visual disturbances.
How is IBGC5 diagnosed?
Diagnosis involves clinical evaluation, brain imaging (CT/MRI) to detect calcifications, and genetic testing for PDGFB gene mutations.
What is the PDGFB gene test?
It is a genetic test using next-generation sequencing (NGS) to identify mutations in the PDGFB gene associated with IBGC5.
How is the genetic test performed?
The test requires a blood sample or extracted DNA, analyzed via NGS technology to sequence the PDGFB gene.
What is the cost of the PDGFB gene test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show the presence or absence of pathogenic mutations in the PDGFB gene, aiding in diagnosis and genetic counseling.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is recommended to interpret results, understand implications, and guide family planning.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, especially if symptoms or family history suggest IBGC5.
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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