FA2H Gene SPG35 NGS Genetic Test
Short Name: FA2H SPG35 NGS
Also known as: FA2H gene mutation test, SPG35 genetic test, FA2H NGS test for hereditary spastic paraplegia
FA2H Gene SPG35 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 Reports are usually delivered within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the FA2H gene that cause hereditary spastic paraplegia type 35 (SPG35), thereby confirming the clinical diagnosis, enabling family segregation studies, and informing genetic counselling and management.
- Test Code
- 4531
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation like fasting is required. However, the patient is advised to undergo pre-test genetic counselling and provide a detailed family history.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A trained professional will collect a blood sample in an EDTA vacutainer or spot one drop of blood on an FTA card. The procedure is quick and generally painless.
Report Delivery
There are no restrictions after collection. The sample is sent to the laboratory for DNA extraction and NGS analysis.
Timeline: Reports are usually delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the FA2H gene that cause hereditary spastic paraplegia type 35 (SPG35), thereby confirming the clinical diagnosis, enabling family segregation studies, and informing genetic counselling and management.
How to Prepare
- Use an EDTA vacutainer for whole blood collection.
- For FTA cards, spot one drop of blood onto the marked circles and allow it to air dry.
- Label the sample with the patient's full name, date of birth, and collection date and time.
- Samples should be shipped to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for FA2H is essential for confirming SPG35 in patients with progressive spastic paraplegia. It enables accurate genetic counseling and appropriate management of neurological symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled sample
- Missing requisition form or consent
- Clotted or hemolyzed whole blood
- Insufficient DNA concentration or quantity
Understanding Your Results
Positive
One or two pathogenic or likely pathogenic variants detected in the FA2H gene confirms the molecular diagnosis in the appropriate clinical context.
Negative
No pathogenic variants detected in the FA2H gene; other genetic causes of HSP may be considered.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unclear. Further family segregation studies may be required.
If you experience progressive leg stiffness, gait disturbance, or have a family history of hereditary spastic paraplegia, consult a neurologist or clinical geneticist.
Limitations
- ⚠This test detects variants in the FA2H gene only; it does not rule out other genetic causes of hereditary spastic paraplegia.
- ⚠Rare deep intronic variants or large structural rearrangements may not be detected by standard NGS.
- ⚠Variants of uncertain significance may require additional familial testing.
Risks & Considerations
- ●Minor bruising at the venipuncture site
- ●Very low risk of infection; standard medical precautions are followed
Interfering Factors
- ●Insufficient sample quantity or poor DNA quality
- ●Sample degradation during transport
- ●Incomplete clinical or family history may affect variant interpretation
Compare With Similar Tests
| Test | FA2H Gene SPG35 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | FA2H Gene SPG35 NGS Genetic Test |
Frequently Asked Questions
What is the FA2H Gene SPG35 NGS Genetic Test?
What is hereditary spastic paraplegia (SPG35)?
When should this test be recommended?
How is the test performed?
Does this test require fasting?
What sample types are accepted?
How long does it take to receive results?
Is home sample collection available?
What does a positive result mean?
What does a negative result mean?
Can this test be used for prenatal diagnosis?
Is the FA2H gene genetic test covered by health insurance?
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