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PDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test

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PDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test

Short Name: PDGFRB BGC Type 4 NGS Test

Also known as: Basal Ganglia Calcification Type 4, PDGFRB-related calcification, Familial idiopathic basal ganglia calcification type 4

PDGFRB Gene Basal ganglia calcification type 4 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Basal Ganglia Calcification Type 4 by detecting pathogenic mutations in the PDGFRB gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.

Test Code
5669
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

No specific preparation is required. Provide detailed clinical history and undergo a genetic counseling session to discuss implications and obtain informed consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or using an FTA card by a trained phlebotomist. Ensure proper identification and labeling.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store the sample as instructed if self-collected.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test purpose, implications, and provide informed consent. Share family medical history.
2
During the Test:Sample collection (blood or DNA) is performed, followed by laboratory analysis using NGS technology. The process is non-invasive for blood draw.
3
After the Test:Receive the report via online portal, email, or WhatsApp. Schedule a follow-up with a healthcare provider or geneticist to discuss results and next steps.

About This Test

Who Should Get This Test

To diagnose Basal Ganglia Calcification Type 4 by detecting pathogenic mutations in the PDGFRB gene using Next-Generation Sequencing technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Verify patient identity and consent
  • Use sterile collection equipment
  • Label the sample with patient details and date
  • Transport the sample to the lab at ambient temperature or as specified

Doctor's Notes

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

"Early genetic testing for PDGFRB mutations can aid in timely management of basal ganglia calcification, particularly in families with a history of neurological disorders, and guide reproductive counseling."

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 FTA card collection

Sample Stability

Room Temperature24 hours
Refrigerated (2-8°C)7 days
Frozen (-20°C)Long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect or missing labeling
  • Insufficient sample volume
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PDGFRB gene. A positive result confirms the diagnosis of basal ganglia calcification type 4, while a negative result suggests no detectable mutation, though clinical correlation is advised.
📊

Positive (Pathogenic variant detected)

Confirms diagnosis of PDGFRB-related basal ganglia calcification type 4. Genetic counseling and management planning recommended.

📊

Negative (No pathogenic variant detected)

No mutation identified in the PDGFRB gene. Consider other genetic or non-genetic causes. Clinical follow-up advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing, family studies, or consultation with a geneticist may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms such as movement disorders, psychiatric issues, cognitive decline, or if there is a family history of basal ganglia calcification, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠May not detect all possible variants in the PDGFRB gene, including deep intronic mutations
  • ⚠Results require interpretation by a qualified geneticist or clinician
  • ⚠Does not rule out other causes of basal ganglia calcification or neurological symptoms
  • ⚠Variant of uncertain significance (VUS) may be identified, necessitating further studies

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential psychological impact of test results, especially if positive
  • ●No significant physical risks from the genetic test itself

Interfering Factors

  • ●Poor sample quality or degradation
  • ●Contamination during sample collection or processing
  • ●Insufficient DNA quantity for analysis
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestPDGFRB Gene Basal ganglia calcification type 4 NGS Genetic TestWhole Exome SequencingSanger SequencingMRI BrainCalcium Metabolism Panel
ComparisonPDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test

Frequently Asked Questions

What is PDGFRB Gene Basal Ganglia Calcification Type 4?
It is a rare genetic disorder caused by mutations in the PDGFRB gene, leading to calcium deposits in the basal ganglia of the brain, resulting in neurological symptoms.
What are the common symptoms of this disorder?
Symptoms include movement disorders (tremors, stiffness, walking difficulties), psychiatric issues (depression, hallucinations), and dementia (memory loss, confusion).
How is the PDGFRB Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the PDGFRB gene from a blood or DNA sample, detecting mutations associated with the disorder.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, with free home sample collection available in many cities 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 nationwide.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic mutation in the PDGFRB gene, diagnosing basal ganglia calcification type 4. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis or family planning?
Genetic counseling is advised to discuss implications for family members and reproductive options, but the test itself is for diagnostic purposes.
Is genetic counseling necessary before taking the test?
Yes, a genetic counseling session is recommended to understand the test, its implications, and to draw a family pedigree chart.
What are the limitations of the PDGFRB Gene NGS Test?
The test may not detect all variants, results require expert interpretation, and it does not rule out other causes of basal ganglia calcification.
How accurate is NGS technology for this genetic test?
NGS is highly accurate for detecting gene mutations, but no test is 100% foolproof. Results should be correlated with clinical findings.
What should I do after receiving the test results?
Consult with a healthcare provider, neurologist, or geneticist to discuss results, management options, and any necessary follow-up testing or counseling.
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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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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