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B4GALNT1 Gene SPG26 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

B4GALNT1 Gene SPG26 NGS Genetic Test

Short Name: SPG26 NGS Test

Also known as: SPG26 Genetic Test, B4GALNT1 Mutation Analysis

B4GALNT1 Gene SPG26 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 issued within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic variants in the B4GALNT1 gene associated with SPG26, thereby confirming a clinical diagnosis, enabling family screening, and providing information for management and genetic counselling.

Test Code
4527
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Share the patient's clinical history and any relevant family history in the genetic counselling session.

Method: Venipuncture or Blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample or the patient may provide a saliva sample. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

The sample is safely transported to the laboratory. No specific aftercare is required.

Timeline: Reports are issued within 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Share the patient's clinical history and any relevant family history in the genetic counselling session.
2
During the Test:A trained phlebotomist will collect a small blood sample or the patient may provide a saliva sample. For FTA card, one drop of blood is applied.
3
After the Test:The sample is safely transported to the laboratory. No specific aftercare is required.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the B4GALNT1 gene associated with SPG26, thereby confirming a clinical diagnosis, enabling family screening, and providing information for management and genetic counselling.

How to Prepare

  • No fasting is required.
  • Inform the laboratory if the patient has had a blood transfusion in the past 3 months.
  • Provide the completed clinical history and pedigree chart before sample collection.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for SPG26 can offer crucial answers for families facing progressive neurological symptoms. This NGS-based test provides a thorough analysis of the B4GALNT1 gene, enabling accurate diagnosis, family screening, and informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube / FTA Card
Collection MethodVenipuncture or Blood spot on FTA card
Sample Rejection Criteria:
  • Insufficient sample
  • Hemolyzed blood
  • Labeling mismatch
  • Sample received after prolonged storage or inappropriate transport temperature

Understanding Your Results

The genetic test report is interpreted by a clinical geneticist in conjunction with the patient's medical history, family pedigree data, and other clinical findings. The result should be discussed with a qualified physician.
Positive result: Detection of a pathogenic or likely pathogenic variant in B4GALNT1 is consistent with a clinical diagnosis of SPG26.
Negative result: No clinically significant variant was identified in the B4GALNT1 gene. This does not exclude other genetic causes.
Variant of uncertain significance: A variant was found but its impact is currently unknown. Additional family studies may be needed.
⚠️ When to Consult a Doctor:

If the test result is positive, or if symptoms persist despite a negative result, please consult a neurologist or clinical geneticist to discuss further management and follow-up.

Limitations

  • ⚠This test detects single nucleotide variants and small insertions/deletions in coding and splice regions of the B4GALNT1 gene.
  • ⚠Large structural variants, repeat expansions, and deep intronic mutations may not be identified.
  • ⚠A negative result does not rule out hereditary spastic paraplegia caused by other genes.

Risks & Considerations

  • ●Slight pain or bruising at the blood draw site
  • ●Rare infection or bleeding at the puncture site

Interfering Factors

  • ●Recent allogeneic bone marrow transplant
  • ●Contamination of sample with another person's DNA
  • ●Sample degradation due to improper storage or transport

Frequently Asked Questions

What is SPG26?
SPG26 is a rare hereditary spastic paraplegia type 26, a progressive neurological disorder caused by mutations in the B4GALNT1 gene. It leads to weakness and stiffness in leg muscles, speech difficulties, and coordination problems.
What does the B4GALNT1 Gene SPG26 NGS Genetic Test detect?
This test uses next-generation sequencing to identify mutations in the B4GALNT1 gene that are associated with SPG26.
Who should consider this test?
Individuals experiencing symptoms such as muscle stiffness, difficulty walking, speech problems, or those with a family history of hereditary spastic paraplegia should consider this test.
What is the cost of the test?
The test costs INR 20,000, which includes genetic counseling and interpretation of results.
What sample is required?
A blood sample or saliva sample, or one drop of blood on an FTA card, is required.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does the test take?
Reports are typically available within 3-4 weeks after the sample is received.
Will genetic counseling be provided?
Yes, genetic counseling is included as part of the test to help you understand the results and implications.
What does a positive result mean?
A positive result means a pathogenic variant in the B4GALNT1 gene was identified, confirming the genetic diagnosis of SPG26. Consultation with a neurologist or geneticist is recommended.
What does a negative result mean?
A negative result indicates no pathogenic variant was found in the B4GALNT1 gene. However, other genetic or non-genetic causes for symptoms may continue to be explored.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How accurate is the NGS test?
NGS is a highly sensitive and accurate technology for detecting mutations in the B4GALNT1 gene. Like all genetic tests, it has limitations, and results are interpreted in clinical context.
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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For Hospitals & Clinics

Reference Laboratory Services

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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Your medical data is protected under Indian law.

✓ 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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