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ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic Test

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ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic Test

Short Name: ERLIN1 Gene SPG62 Test

Also known as: SPG62, Spastic Paraplegia Type 62, ERLIN1-related NGS Test

ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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

To detect mutations in the ERLIN1 gene for diagnosis of SPG62, enabling clinical management, genetic counseling, and family risk assessment.

Test Code
1820
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
Yes
Method
NGS Technology
Step 1

Sample Collection

Patient should provide detailed clinical history and family pedigree. Fasting for 8-12 hours may be required as per laboratory instructions.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture into an EDTA tube, or one drop on FTA card for DNA preservation.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient conditions for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, draw a pedigree chart, and obtain informed consent.
2
During the Test:Blood draw or DNA extraction followed by NGS sequencing of the ERLIN1 gene.
3
After the Test:Report generation within 3-4 weeks and consultation with genetic counselor for result interpretation.

About This Test

Who Should Get This Test

To detect mutations in the ERLIN1 gene for diagnosis of SPG62, enabling clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Fast for 8-12 hours if specified by the testing center
  • Provide informed consent and referral from a physician
  • Ensure sample is properly labeled with patient details

Doctor's Notes

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

"Genetic testing for ERLIN1 can help confirm SPG62 diagnosis, guide family planning, and inform management strategies for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube for blood samples
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the ERLIN1 gene, aiding in the diagnosis of SPG62.
📊

No pathogenic variants detected

Normal ERLIN1 gene sequence; SPG62 is unlikely based on this test.

📊

Pathogenic variant detected

Confirms diagnosis of SPG62; genetic counseling and management recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if experiencing progressive muscle stiffness, weakness, balance issues, or other neurological symptoms suggestive of SPG62.

Limitations

  • ⚠May not detect all types of genetic variations
  • ⚠Results may include variants of uncertain significance
  • ⚠Requires professional genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestERLIN1 Gene SPG62, ERLIN1 related NGS Genetic TestWhole Exome SequencingTargeted Gene Panel for HSP
ComparisonERLIN1 Gene SPG62, ERLIN1 related NGS Genetic Test

Frequently Asked Questions

What is ERLIN1 Gene SPG62?
ERLIN1 Gene SPG62 is a rare genetic disorder characterized by progressive muscle stiffness and weakness due to mutations in the ERLIN1 gene.
What are the common symptoms of SPG62?
Symptoms include progressive muscle stiffness, weakness in lower limbs, spasticity, balance issues, and impaired speech.
How is SPG62 diagnosed?
Diagnosis involves clinical evaluation, neurological examination, MRI, and definitive genetic testing via NGS to detect ERLIN1 mutations.
What is an NGS Genetic Test?
NGS (Next-Generation Sequencing) is a high-throughput method that sequences DNA to accurately identify genetic mutations, used for diagnosing conditions like SPG62.
What is the cost of the ERLIN1 gene test in India?
The NGS Genetic Test for ERLIN1 Gene SPG62 costs INR 20000 in India, with possible discounts and home collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered across many cities in India for online bookings.
How long does it take to receive the test results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
Is genetic testing for SPG62 covered by insurance?
Generally, it is not covered by insurance as it is considered a rare disease test; financial assistance may be available.
What should I do before taking the test?
Provide clinical history, undergo genetic counseling, and follow fasting instructions if required.
Can this test detect all mutations in the ERLIN1 gene?
NGS is highly accurate but may not detect all types of mutations; variants of uncertain significance may be found.
What is the significance of a positive test result?
A positive result confirms SPG62 diagnosis, aiding in management, genetic counseling, and family planning.
Who should consider getting tested for SPG62?
Individuals with symptoms of progressive muscle stiffness, family history of HSP, or neurological abnormalities suggestive of SPG62.
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.
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.

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