FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic Test
Short Name: FOLR1 CFTD NGS Test
Also known as: CFTD Genetic Test, FOLR1 Mutation Analysis, Cerebral Folate Deficiency Gene Test
FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the FOLR1 gene that cause cerebral folate transport deficiency (CFTD), enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.
- Test Code
- 1765
- 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)
Sample Collection
No specific preparation required. Provide clinical history and genetic counseling details.
Method: Venipuncture or finger prick for FTA Card
Laboratory Analysis
Blood sample collected via venipuncture or finger prick for FTA card in a sterile environment.
Report Delivery
Sample transported at ambient temperature to the laboratory for processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the FOLR1 gene that cause cerebral folate transport deficiency (CFTD), enabling accurate diagnosis, management, and genetic counseling for affected individuals and families.
How to Prepare
- Use EDTA tube for blood samples or FTA card for one-drop blood
- Label samples with patient details and test information
- Avoid hemolysis during blood collection
- Store samples at room temperature and ship promptly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a geneticist, I recommend the FOLR1 Gene NGS Test for individuals with symptoms of cerebral folate transport deficiency, such as developmental delays or seizures, to guide early intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood samples
- Improper labeling or documentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CFTD due to FOLR1 mutation. Consider folate supplementation and neurological management.
No pathogenic variant detected
Reduces likelihood of FOLR1-related CFTD, but other causes should be investigated.
Variant of uncertain significance
Further testing or family studies may be needed for clinical correlation.
Consult a genetic counselor or neurologist if symptoms such as developmental delays, seizures, or cognitive decline persist, or if family history suggests CFTD.
Limitations
- ⚠May not detect all possible mutations or variants of uncertain significance
- ⚠Does not rule out other genetic or metabolic disorders
- ⚠Results should be correlated with clinical symptoms and family history
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic Test | CSF 5-MTHF Level Test | Single Gene Sequencing |
|---|---|---|---|
| Comparison | FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic 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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✓ 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.
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