CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic Test
Short Name: CSF1R Gene Leukoencephalopathy NGS Test
Also known as: HDLS, Hereditary Diffuse Leukoencephalopathy with Spheroids
CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the CSF1R Gene Leukoencephalopathy NGS Genetic Test is to confirm diagnosis of HDLS by detecting pathogenic mutations in the CSF1R gene, aiding in clinical management, genetic counseling, and family risk assessment.
- Test Code
- 1661
- 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
- NGS Technology
Sample Collection
No special preparation required. Genetic counseling session recommended to discuss family history and test implications.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist or one drop of blood placed on an FTA card. For extracted DNA, sample provided as per lab requirements.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Keep the sample at ambient room temperature for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CSF1R Gene Leukoencephalopathy NGS Genetic Test is to confirm diagnosis of HDLS by detecting pathogenic mutations in the CSF1R gene, aiding in clinical management, genetic counseling, and family risk assessment.
How to Prepare
- Provide clinical history of the patient for CSF1R Gene Leukoencephalopathy
- A genetic counseling session to draw a pedigree chart of family members affected with HDLS is advised
- Ensure sample is labeled correctly and transported to the lab promptly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through CSF1R gene testing is crucial for managing HDLS symptoms, guiding treatment, and enabling family genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Contaminated FTA cards
Understanding Your Results
Positive for CSF1R pathogenic variant
Confirms diagnosis of HDLS. Genetic counseling and family testing recommended.
Negative for CSF1R pathogenic variant
HDLS less likely, but consider other causes if symptoms persist. May need repeat testing or alternative diagnoses.
Variant of uncertain significance (VUS)
Further testing or family studies recommended. Clinical management based on symptoms.
If you experience symptoms such as progressive cognitive decline, memory loss, movement issues, or have a family history of HDLS. Consult a neurologist or geneticist for evaluation and to discuss test results.
Limitations
- ⚠May not detect all types of CSF1R mutations, such as large deletions
- ⚠Results require interpretation by a genetic specialist
- ⚠Cannot predict disease severity or progression in all cases
Risks & Considerations
- ●Minimal risk from blood draw: bruising, soreness, or rare infection at puncture site
- ●Psychological impact of genetic results; counseling support provided
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample storage or handling
- ●Recent blood transfusion may affect DNA analysis
Compare With Similar Tests
| Test | CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic Test | MRI detects white matter abnormalities but cannot confirm genetic cause; NGS provides definitive genetic diagnosis. | NGS is more cost-effective and efficient for screening multiple genes, while Sanger is targeted but slower. | This test focuses on CSF1R, whereas panels may include multiple genes for broader screening. |
Frequently Asked Questions
What is CSF1R Gene Leukoencephalopathy (HDLS)?
What are the common symptoms of HDLS?
How is HDLS diagnosed?
What is NGS genetic testing?
What is the cost of the CSF1R Gene Leukoencephalopathy NGS Test?
Is home sample collection available for this test?
How long does it take to get the test results?
Is the test covered by insurance?
What do positive test results mean?
Can the test be done for family members?
Are there any risks associated with the test?
How do I prepare for the test?
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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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