HSPD1 Gene SPG13 NGS Genetic Test
Short Name: HSPD1 Gene SPG13 Test
Also known as: SPG13 Genetic Test, HSPD1 Gene Mutational Analysis, HSPD1 Gene Sequencing
HSPD1 Gene SPG13 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 Results are delivered within 3 to 4 weeks from sample receipt. You will be notified by email or WhatsApp when the report is ready.. 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 confirm or exclude a diagnosis of SPG13 in individuals presenting with symptoms of hereditary spastic paraplegia, and to provide molecular data for genetic counselling and family planning.
- Test Code
- 4518
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are delivered within 3 to 4 weeks from sample receipt. You will be notified by email or WhatsApp when the report is ready.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session will be conducted before test scheduling to draw a pedigree chart and assess family history. Continue your regular medications unless instructed otherwise by your doctor.
Method: Blood draw or FTA card spot
Laboratory Analysis
A blood sample will be collected from a vein by a trained phlebotomist. Alternatively, a dried blood spot on an FTA card can be used for DNA extraction.
Report Delivery
No special precautions are needed. You can resume your normal activities immediately.
Timeline: Results are delivered within 3 to 4 weeks from sample receipt. You will be notified by email or WhatsApp when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or exclude a diagnosis of SPG13 in individuals presenting with symptoms of hereditary spastic paraplegia, and to provide molecular data for genetic counselling and family planning.
How to Prepare
- Provide a valid government-issued ID.
- Ensure correct patient identification details.
- No need to be fasting.
- Let the phlebotomist know if you have any bleeding disorders or are taking anticoagulants.
- For FTA card sampling, a few drops of blood will be placed on the card and air-dried.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG13 should be considered when a patient presents with spastic paraplegia and a family history suggestive of autosomal dominant inheritance. Molecular confirmation helps guide management and reproductive decision-making."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Mislabeled specimen
- Broken or leaking sample container
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was identified in the HSPD1 gene. This does not completely rule out other forms of HSP.
Positive
A pathogenic or likely pathogenic variant was identified in the HSPD1 gene, confirming the diagnosis of SPG13.
Variant of Uncertain Significance (VUS)
A variant was found whose clinical significance is not yet clear. Additional family studies or functional tests may be recommended.
If you or a family member have symptoms of progressive leg weakness, stiffness, spasticity, gait difficulty, or sensory symptoms in the legs, or if HSP runs in your family, consult a neurologist or a genetic specialist.
Limitations
- ⚠This test analyzes only the HSPD1 gene and does not rule out mutations in other genes causing hereditary spastic paraplegia.
- ⚠Large indels or structural rearrangements may not be detectable by NGS-based sequencing.
- ⚠A variant of uncertain significance may require additional family studies or functional analysis.
Risks & Considerations
- ●Minimal risk of pain, bruising, or infection at the blood draw site.
Interfering Factors
- ●Insufficient or degraded DNA sample
- ●Contamination during sample handling
- ●Concurrent hematological disorders
- ●Rare genetic variants outside the targeted region may not be detected
Frequently Asked Questions
What is the HSPD1 Gene SPG13 NGS Genetic Test?
What is the cost of this test?
What sample is needed?
Is fasting required?
How long will the report take?
Does DNA Labs India offer home sample collection?
Who should undergo this test?
What does genetic counselling involve?
What are the symptoms of SPG13?
Can a negative result rule out hereditary spastic paraplegia?
Will my insurance cover the test?
Will I receive raw data files?
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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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