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XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic Test

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XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic Test

Short Name: XPR1 Gene BGC Type 6 NGS Test

Also known as: Idiopathic Basal Ganglia Calcification Type 6, Fahr Disease Type 6

XPR1 Gene Basal ganglia calcification type 6, 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.

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 identify mutations in the XPR1 gene associated with basal ganglia calcification type 6, enabling accurate diagnosis, genetic counseling, and informed management of neurological symptoms.

Test Code
5672
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 required. Provide clinical history and family pedigree information.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Sample collection takes a few minutes. The test involves NGS sequencing in the laboratory.
3
After the Test:Results are available online after 3-4 weeks. Genetic counseling is provided.

About This Test

Who Should Get This Test

To identify mutations in the XPR1 gene associated with basal ganglia calcification type 6, enabling accurate diagnosis, genetic counseling, and informed management of neurological symptoms.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"This NGS genetic test is essential for confirming XPR1 gene mutations in patients with idiopathic basal ganglia calcification, guiding treatment and family planning."

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: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling or insufficient volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the XPR1 gene. Genetic counseling is recommended for understanding implications.
📊

Pathogenic variant detected

Confirms diagnosis of XPR1 gene basal ganglia calcification type 6. Genetic counseling and family screening advised.

📊

No pathogenic variant detected

No mutations found in the XPR1 gene. Clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be required.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist, for result interpretation, or for family planning advice.

Limitations

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

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is XPR1 Gene Basal Ganglia Calcification Type 6?
It is a rare neurological condition caused by mutations in the XPR1 gene, leading to calcium deposits in the basal ganglia, with symptoms like movement disorders and cognitive impairment.
What are the common symptoms of this condition?
Symptoms include tremors, stiffness, coordination issues, memory loss, confusion, depression, anxiety, and psychosis, varying from person to person.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the entire genome and identify mutations in the XPR1 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, sequencing, analysis, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a pathogenic variant in the XPR1 gene, indicating basal ganglia calcification type 6, and genetic counseling is recommended.
Is genetic counseling required for this test?
Yes, genetic counseling is included and recommended to understand results, implications, and family planning.
Can this test be done for children?
Yes, the test is suitable for all ages, including pediatrics, as indicated.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but psychological impact of results should be considered.
How accurate is the NGS Genetic Test?
The test is highly accurate for detecting mutations in the XPR1 gene, but results should be correlated with clinical findings.
Where can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp 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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