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SPAST Gene SPG4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SPAST Gene SPG4 NGS Genetic Test

Short Name: SPAST (SPG4) NGS

Also known as: HSP SPAST gene mutation test, SPG4 hereditary spastic paraplegia test, Spastin gene sequencing, SPAST gene analysis

SPAST Gene SPG4 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 generally available in 3 to 4 weeks after the sample reaches the laboratory.. 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

The purpose of the SPAST Gene SPG4 NGS Genetic Test is to identify disease-causing variants in the SPAST gene associated with hereditary spastic paraplegia type 4. This helps confirm clinical suspicion, guide management, and provide risk information for family members.

Test Code
4537
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session to draw a pedigree chart of family members affected with SPAST gene disease is recommended before the test. No fasting is required. Please carry any previous medical records if available.

Method: Blood draw by phlebotomist or FTA card spot

Step 2

Laboratory Analysis

A small blood sample will be drawn. If an FTA card is used, one drop of blood will be placed on the card. The procedure is simple and does not require sedation.

Step 3

Report Delivery

No special aftercare is required. You can resume your daily activities immediately after sample collection.

Timeline: Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session to draw a pedigree chart of family members affected with SPAST gene disease is recommended before the test. Carry previous medical reports, MRI reports, and neurological assessment notes if available.
2
During the Test:A blood sample or FTA card sample will be collected. The collection takes only a few minutes and no anaesthesia or fasting is required.
3
After the Test:You may leave immediately after sample collection. There are no activity restrictions. The laboratory will process the sample and share the report within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the SPAST Gene SPG4 NGS Genetic Test is to identify disease-causing variants in the SPAST gene associated with hereditary spastic paraplegia type 4. This helps confirm clinical suspicion, guide management, and provide risk information for family members.

How to Prepare

  • No fasting required.
  • Complete the clinical history and genetic counselling session before testing.
  • Carry a valid doctor's prescription if applicable.
  • Use the provided EDTA tube or FTA card for home sample collection.

Doctor's Notes

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

"A targeted SPAST gene test should be considered when the clinical picture suggests hereditary spastic paraplegia. Genetic counselling is essential before testing, especially for patients who may need reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or one drop Blood on FTA Card
Sample VolumeAs per laboratory collection protocol
ContainerEDTA vacutainer or FTA card
Collection MethodBlood draw by phlebotomist or FTA card spot
Sample Rejection Criteria:
  • Mislabeled or unlabeled sample
  • Clotted blood sample
  • Insufficient amount of extracted DNA
  • Sample exposed to repeated freeze-thaw cycles
  • FTA card not air-dried before packaging

Understanding Your Results

The SPAST Gene SPG4 NGS Genetic Test is interpreted in the context of the patient's clinical findings and family history. Variants are classified based on established ACMG/AMP guidelines, and the report should be reviewed by the referring physician or clinical geneticist.
📊

The variant is disease-causing and can support a diagnosis of SPAST-related HSP.

Action: Genetic counselling and clinical screening of at-risk family members recommended.

📊

The variant is highly suspected to cause disease but additional evidence may be needed.

Action: Correlate with clinical features; family segregation studies may help.

📊

The variant is not currently classified as disease-causing or benign.

Action: Further family studies or follow-up testing may be needed to clarify significance.

📊

The variant is not considered to be disease-causing.

Action: No specific medical action based on this variant. Continue clinical management as indicated.

⚠️ When to Consult a Doctor:

Consult your referring physician or a clinical geneticist if you have symptoms suggestive of HSP, a family history of hereditary spastic paraplegia, or if the test result identifies a pathogenic or likely pathogenic variant.

Limitations

  • ⚠This targeted NGS test covers the SPAST gene only and does not analyse all genes associated with HSP.
  • ⚠Variants in deep non-coding regulatory regions may not be detected.
  • ⚠Large structural rearrangements may require additional testing such as MLPA or chromosomal microarray.
  • ⚠A negative result does not exclude non-genetic causes or HSP caused by other genes.
  • ⚠Genetic results must be interpreted by a qualified clinician in the context of the full clinical picture.

Risks & Considerations

  • ●Minimal pain or bruising at the blood-draw site
  • ●Dizziness or light-headedness during venipuncture
  • ●Very low risk of infection at the puncture site

Interfering Factors

  • ●Poor sample quality or degraded DNA
  • ●Incorrect specimen labeling
  • ●Failure to provide clinical history and family pedigree
  • ●DNA variants outside the analysed SPAST coding and splice regions
  • ●Large exon-level deletions or duplications that may require additional dosage analysis

Compare With Similar Tests

TestSPAST Gene SPG4 NGS Genetic Test
ComparisonSPAST Gene SPG4 NGS Genetic Test

Frequently Asked Questions

What is hereditary spastic paraplegia (HSP)?
HSP is a rare inherited neurological disorder that causes progressive weakness, stiffness, and spasticity in the lower limbs. Mutations in the SPAST gene are a common cause of the SPG4 subtype.
What is the SPAST Gene SPG4 NGS Genetic Test?
It is a next-generation sequencing test that looks for disease-causing variants in the SPAST gene. It is used to confirm or exclude the diagnosis of SPG4-related hereditary spastic paraplegia.
Who is this test recommended for?
This test is recommended for individuals with symptoms such as progressive leg weakness, spasticity, gait difficulty, or urinary urgency, and for those with a family history of hereditary spastic paraplegia.
Is fasting required before the test?
No. Fasting is not required for the SPAST Gene SPG4 NGS Genetic Test.
What sample is needed?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted.
How is the test performed?
The test uses next-generation sequencing (NGS) technology to analyse the SPAST gene for mutations.
What is the cost of the test?
The test cost at DNA Labs India is INR 20000.
How long does it take to get the report?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Will I get raw DNA data along with the clinical report?
Yes. DNA Labs India provides raw data files, including FASTQ and VCF, along with the clinical report.
What does the clinical report include?
The report includes analysis of the SPAST gene, identification of variants, classification of variants, and interpretation in the context of clinical symptoms.
Can a negative SPAST test rule out all forms of HSP?
No. A negative SPAST gene test means no significant variant was found in SPAST, but HSP can be caused by other genes. Additional genetic testing may be needed.
Who should interpret the test result?
A clinical geneticist or neurologist should interpret the result in the context of the patient's symptoms, family history, and other clinical findings.
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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