Skip to main content
DNA Labs India

ERLIN2 Gene SPG18 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ERLIN2 Gene SPG18 NGS Genetic Test

Short Name: ERLIN2 Gene SPG18 NGS Test

Also known as: ERLIN2 Gene Mutation Test, SPG18 Genetic Test, Hereditary Spastic Paraplegia Type 18 NGS Test, ERLIN2 Associated Spastic Paraplegia Genetic Test

ERLIN2 Gene SPG18 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 delivered in 3 to 4 weeks from sample received at the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All 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 this test is to detect disease-causing mutations in the ERLIN2 gene to confirm or exclude a diagnosis of Hereditary Spastic Paraplegia Type 18 (SPG18) in symptomatic individuals, and to provide accurate information for genetic counseling and family planning.

Test Code
4523
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks from sample received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is required before sample collection to draw a pedigree chart and record the clinical history of the patient. No fasting is required. Please carry any previous medical records, imaging reports, or family history documents related to hereditary spastic paraplegia.

Method: Venipuncture or fingerstick (FTA card)

Step 2

Laboratory Analysis

A health professional will collect a blood sample from a vein in your arm using a sterile needle. Alternatively, for FTA card collection, a small fingerstick blood sample may be obtained. The procedure is quick and typically causes minimal discomfort.

Step 3

Report Delivery

Pressure is applied to the puncture site to prevent bleeding. You can resume normal activities immediately. The collected sample is labelled and sent to the laboratory for NGS processing.

Timeline: Reports are delivered in 3 to 4 weeks from sample received at the laboratory.

Patient Instructions

1
Before the Test:Pre-test genetic counseling is mandatory. The counselor will explain the purpose, limitations, and potential implications of the test. A signed informed consent and detailed clinical history are required.
2
During the Test:Sample collection is performed by venipuncture or fingerstick. The sample is then sent to the NGS laboratory for DNA extraction, sequencing, and bioinformatics analysis.
3
After the Test:The report is typically issued in 3 to 4 weeks. A follow-up genetic counseling session is recommended to discuss the results, their implications for the patient and family, and available management and reproductive options.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing mutations in the ERLIN2 gene to confirm or exclude a diagnosis of Hereditary Spastic Paraplegia Type 18 (SPG18) in symptomatic individuals, and to provide accurate information for genetic counseling and family planning.

How to Prepare

  • Complete a genetic counseling session prior to testing
  • Provide detailed clinical and family history to the genetic counselor
  • No fasting is required before sample collection
  • For blood sample, an EDTA vacutainer is preferred
  • For FTA card, one drop of blood from a fingerstick is sufficient
  • Free home sample collection is available for online bookings

Doctor's Notes

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

"Genetic counseling and a detailed family history are essential for interpreting hereditary spastic paraplegia results and guiding 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, sterile DNA vial, or FTA card
Collection MethodVenipuncture or fingerstick (FTA card)
Sample Rejection Criteria:
  • Clotted or hemolyzed blood samples due to improper handling
  • Samples that are improperly labelled or have insufficient patient details
  • Samples that have exceeded the maximum transport time without proper storage
  • FTA cards with contaminated or insufficient blood spots

Understanding Your Results

This test analyses the ERLIN2 gene for sequence variants. Results should be interpreted by a clinical geneticist in the context of the individual's clinical presentation, family history, and other laboratory findings.
Negative result: No pathogenic or likely pathogenic variants were detected in the ERLIN2 gene. This reduces the likelihood of SPG18 but does not exclude other forms of hereditary spastic paraplegia.
Positive result: A pathogenic or likely pathogenic variant was identified in the ERLIN2 gene. This confirms a molecular diagnosis of SPG18 and allows targeted family testing.
Variant of uncertain significance (VUS): A genetic variant was found, but its clinical significance is currently unclear. Additional family studies and functional evidence may be required to clarify its role.
⚠️ When to Consult a Doctor:

If you or your child experience progressive leg stiffness, weakness, frequent falls, numbness or tingling in the legs, or bladder symptoms, consult a neurologist. If there is a known family history of hereditary spastic paraplegia, seek genetic counseling before testing.

Limitations

  • ⚠The test only analyses the ERLIN2 gene and does not rule out other subtypes of hereditary spastic paraplegia.
  • ⚠Variants of uncertain significance (VUS) may be reported; additional familial testing may be required.
  • ⚠In some cases, a second inherited variant may not be identified due to technical limitations.
  • ⚠This test is not intended as a prenatal or preimplantation diagnostic tool unless specifically requested and validated.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Very low risk of infection at the puncture site
  • ●Possible emotional or psychological impact from unexpected genetic findings

Interfering Factors

  • ●NGS may not reliably detect deep intronic variants, large structural rearrangements, or repeat expansions.
  • ●Sample quality issues (e.g., hemolysis, insufficient DNA) may affect test performance.
  • ●Rare sequence misalignment due to homologous regions may cause false negatives or false positives.

Compare With Similar Tests

TestERLIN2 Gene SPG18 NGS Genetic Test
ComparisonERLIN2 Gene SPG18 NGS Genetic Test

Frequently Asked Questions

What is the ERLIN2 Gene SPG18 NGS Genetic Test?
It is a next-generation sequencing (NGS) based genetic test that examines the ERLIN2 gene for mutations known to cause Hereditary Spastic Paraplegia Type 18 (SPG18), a rare neurological disorder characterised by progressive leg stiffness and weakness.
What is the cost of the ERLIN2 Gene SPG18 NGS Genetic Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection included for online bookings.
What sample is required for the test?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used for the test.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
Who should consider taking this test?
Individuals showing symptoms of hereditary spastic paraplegia, such as progressive leg spasticity, weakness, or bladder problems, and those with a family history of SPG18 may consider this test.
What are the common symptoms of SPG18?
Symptoms include difficulty walking or standing, stiffness and spasticity in the legs, leg weakness, numbness or tingling, balance problems, and urinary urgency or incontinence.
How is SPG18 diagnosed?
Diagnosis starts with a neurological examination, MRI of the brain and spinal cord to rule out other conditions, and is confirmed by genetic testing, such as the ERLIN2 Gene SPG18 NGS Genetic Test.
What is the turnaround time for getting test results?
Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India when you book online.
How is this test performed?
The test uses Next Generation Sequencing (NGS) technology to analyse the ERLIN2 gene in parallel with high accuracy, detecting point mutations and small insertions or deletions.
Can this test help in family planning decisions?
Yes, if a pathogenic ERLIN2 mutation is identified, it can be used for carrier testing of at-risk family members and may inform reproductive decisions. Genetic counseling is highly recommended.
Will I receive genetic counseling after the results?
Pre-test genetic counseling is mandatory. Post-test counseling is strongly recommended and available through DNA Labs India to help you understand the results and their implications for your health and family.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

LIMS Integration

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.