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L1CAM Gene SPG1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

L1CAM Gene SPG1 NGS Genetic Test

Short Name: L1CAM SPG1 NGS

Also known as: SPG1 Genetic Test, L1CAM Mutation Analysis, Hereditary Spastic Paraplegia Type 1 Sequencing

L1CAM Gene SPG1 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 Once the sample is received at DNA Labs India, results are typically delivered in 3 to 4 weeks. The exact time may vary depending on the sequencing runs and the need for additional confirmation.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the L1CAM Gene SPG1 NGS Genetic Test is to detect mutations in the L1CAM gene that cause hereditary spastic paraplegia type 1 (SPG1). This molecular test supports clinical diagnosis, helps differentiate SPG1 from other types of spastic paraplegia, and enables informed genetic counselling for affected families.

Test Code
4517
ICD Code
G11.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Once the sample is received at DNA Labs India, results are typically delivered in 3 to 4 weeks. The exact time may vary depending on the sequencing runs and the need for additional confirmation.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is needed. However, a genetic counselling session is recommended before undergoing the test to discuss the purpose, possible outcomes, and implications for you and your family. Please bring any relevant clinical records or family history information.

Method: Venipuncture or Fingerprick

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-5 mL of blood from a vein in your arm. Alternatively, a finger-prick blood spot may be collected on an FTA card. The process takes only a few minutes and is minimally invasive.

Step 3

Report Delivery

You may leave the collection site immediately and resume normal activities. There are no restrictions following sample collection. Your sample will be transported to the laboratory for analysis.

Timeline: Once the sample is received at DNA Labs India, results are typically delivered in 3 to 4 weeks. The exact time may vary depending on the sequencing runs and the need for additional confirmation.

Patient Instructions

1
Before the Test:No preparation is required. However, you should attend a genetic counselling session to discuss the procedure, cost, limitations, and psychological implications of the test.
2
During the Test:The test involves a simple blood draw. You may feel a temporary pricking sensation. The entire process takes less than 10 minutes.
3
After the Test:You can resume your normal routine immediately. The laboratory will process your sample and share the report within 3-4 weeks. You will be notified when the report is available.

About This Test

Who Should Get This Test

The purpose of the L1CAM Gene SPG1 NGS Genetic Test is to detect mutations in the L1CAM gene that cause hereditary spastic paraplegia type 1 (SPG1). This molecular test supports clinical diagnosis, helps differentiate SPG1 from other types of spastic paraplegia, and enables informed genetic counselling for affected families.

How to Prepare

  • Carry a valid government-issued ID proof.
  • Inform the lab if you have had a bone marrow transplant or allogeneic stem cell transplant as it may affect results.
  • If you are on anticoagulants, mention this to the phlebotomist.
  • For FTA card collection, ensure the card is stored in a clean, dry condition after sampling.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This genetic test is crucial for confirming inherited spastic paraplegia. I recommend genetic counselling before and after testing to guide management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL whole blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerprick

Sample Stability

Whole blood (EDTA) at room temperature: 24-48 hours
Whole blood (EDTA) at 2-8°C: 5-7 days
Extracted DNA at -20°C: 1 year
FTA card at room temperature: 1 year
Sample Rejection Criteria:
  • Samples with a transit time exceeding 7 days without refrigeration
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume for DNA extraction
  • Sample label without patient identifiers or date of collection
  • Improperly stored or contaminated FTA cards

Understanding Your Results

The results of the L1CAM Gene SPG1 NGS Genetic Test are interpreted by a qualified clinical geneticist. The presence of a pathogenic or likely pathogenic mutation confirms the diagnosis and the X-linked inheritance pattern. A negative result significantly reduces but does not entirely exclude SPG1, especially if no known familial mutation has been identified.
📊

Negative

No pathogenic variant detected in the L1CAM gene. The clinical diagnosis of SPG1 is less likely, though other genetic causes should be considered.

📊

Positive (Pathogenic/Likely Pathogenic)

A disease-causing mutation has been identified. This confirms the diagnosis of SPG1 or L1CAM-related disorder and enables predictive testing for at-risk relatives.

📊

Variant of Unknown Significance (VUS)

A genetic change has been identified, but its clinical significance is not yet known. Additional family segregation studies and/or functional analyses may be recommended.

⚠️ When to Consult a Doctor:

If you or a family member experience symptoms such as progressive leg weakness, spasticity, or urinary urgency of unknown cause, or if there is a known family history of SPG1, please consult a neurologist or a medical geneticist to determine whether genetic testing is appropriate.

Limitations

  • ⚠This test detects mutations only in the L1CAM gene. Other genes associated with hereditary spastic paraplegia are not included.
  • ⚠Large structural rearrangements, such as whole exon or gene deletions, may be missed by NGS and require MLPA or chromosomal microarray.
  • ⚠Variants in regulatory regions or deep intronic regions may not be adequately covered.
  • ⚠Variant of unknown significance (VUS) may require additional family studies to determine clinical significance.
  • ⚠A negative result does not entirely exclude a genetic cause of spastic paraplegia.

Risks & Considerations

  • ●Minor pain or bruising at the puncture site
  • ●Infection (rare) if the puncture site is not kept clean
  • ●Dizziness or fainting during blood collection (rare)

Interfering Factors

  • ●DNA sample degradation
  • ●Contamination with non-blood cells
  • ●PCR or sequencing artifacts
  • ●Poor sequence coverage in GC-rich regions
  • ●Large deletions or duplications not detected by NGS alone

Compare With Similar Tests

TestL1CAM Gene SPG1 NGS Genetic TestL1CAM Gene SPG1 NGS TestHereditary Spastic Paraplegia PanelWhole Exome Sequencing
ComparisonL1CAM Gene SPG1 NGS Genetic Test

Frequently Asked Questions

What is the L1CAM gene SPG1 NGS genetic test?
This is an advanced next-generation sequencing test that analyses the L1CAM gene for mutations causing hereditary spastic paraplegia type 1 (SPG1). It is performed on a blood sample and helps confirm the clinical diagnosis.
What is the cost of this test at DNA Labs India?
The L1CAM Gene SPG1 NGS Genetic Test is priced at INR 20,000. DNA Labs India offers free home sample collection for online bookings across major cities in India.
What are the symptoms of SPG1 that might require this test?
Common symptoms include progressive weakness and stiffness in the legs, difficulty walking, spasticity and hyperreflexia in the lower limbs, and urinary urgency or frequency. These signs may begin in childhood or adolescence and worsen over time.
Is the L1CAM gene related to other disorders besides SPG1?
Yes, mutations in L1CAM can also cause MASA syndrome, X-linked hydrocephalus, and CRASH syndrome. These conditions share overlapping clinical features.
How is the L1CAM gene SPG1 NGS test different from Sanger sequencing?
NGS can analyse all coding exons of the gene in a single run with high sensitivity, whereas Sanger sequencing is typically used to target known specific mutations in a family or confirm a previously identified variant.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. The sample can be collected at any time of the day.
What type of sample is needed?
We accept 2-5 mL whole blood in an EDTA vacutainer, extracted DNA, or a few drops of blood on an FTA card. The FTA card method is particularly convenient for home collection.
Will I receive raw sequencing data with my report?
Yes, DNA Labs India is transparent about its genetic testing. We provide raw data files including FASTQ and VCF upon request, along with a conclusive clinical report.
Can this test be done during pregnancy?
Yes, if there is a known L1CAM mutation in the family, prenatal diagnosis is possible using fetal DNA from amniotic fluid or chorionic villus sampling after genetic counselling.
How long does it take to get the results?
The report is generally available within 3 to 4 weeks after the sample is received by the laboratory.
Does a negative result completely rule out SPG1?
A negative result makes SPG1 very unlikely, but it does not exclude all genetic causes of hereditary spastic paraplegia. Other genes may also be involved, so broader genetic testing may be needed.
How should I interpret a 'variant of unknown significance' result?
A VUS means a genetic change was found, but its clinical significance is not yet determined. The laboratory and your genetic counsellor may recommend testing of family members to see how the variant segregates with the disease.
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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