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C12ORF65 Gene SPG55 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

C12ORF65 Gene SPG55 NGS Genetic Test

Short Name: SPG55 NGS Genetic Test

Also known as: Hereditary Spastic Paraplegia Type 55, SPG55

C12ORF65 Gene SPG55 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose hereditary spastic paraplegia type 55 (SPG55) by detecting mutations in the C12ORF65 gene, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
1810
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Obtain detailed clinical history and family pedigree through a genetic counseling session.

Method: Blood Draw or Cheek Swab

Step 2

Laboratory Analysis

Sample collection via blood draw from a vein or a cheek swab.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Gather family medical history and undergo genetic counseling to understand the test implications.
2
During the Test:Blood draw or cheek swab collection at a clinic or via home collection service.
3
After the Test:Wait for results (3-4 weeks) and attend post-test counseling for interpretation.

About This Test

Who Should Get This Test

To diagnose hereditary spastic paraplegia type 55 (SPG55) by detecting mutations in the C12ORF65 gene, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Provide clinical history and family details during pre-test counseling
  • Ensure proper identification and sample labeling
  • Follow standard phlebotomy or swab procedures

Doctor's Notes

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

"Genetic testing for SPG55 is crucial for early diagnosis and family planning. Consult a genetic counselor to understand implications and management options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or Cheek Swab
Sample Rejection Criteria:
  • Insufficient sample volume
  • Sample contamination or hemolysis
  • Improper storage or transport conditions

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the C12ORF65 gene. A positive result confirms SPG55, while a negative result may require further investigation.
Positive: Pathogenic variant detected – confirms diagnosis of SPG55
Negative: No pathogenic variant found – does not entirely rule out SPG55 due to test limitations
Variant of uncertain significance (VUS) – requires additional family studies and clinical correlation
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately after a positive result to discuss management, or if symptoms persist despite a negative result.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Not a substitute for clinical diagnosis; correlation with symptoms is essential

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Minimal risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample collection or handling

Frequently Asked Questions

What is the C12ORF65 Gene SPG55 NGS Genetic Test?
It is a genetic test using next-generation sequencing to detect mutations in the C12ORF65 gene, which causes hereditary spastic paraplegia type 55 (SPG55).
Who should consider this test?
Individuals with symptoms like progressive leg stiffness, walking difficulties, speech issues, intellectual disability, seizures, or a family history of SPG55.
How is the test performed?
A blood sample or cheek swab is collected, and DNA is analyzed using NGS technology to identify gene mutations.
What is the cost of the test?
The cost is INR 20000, which includes the test and genetic counseling services.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the results mean?
Results show if pathogenic variants are present in the C12ORF65 gene. A positive result confirms SPG55; a negative result may require further evaluation.
Is genetic counseling required?
Yes, pre-test and post-test genetic counseling are recommended to interpret results and discuss implications.
Are there any risks or side effects?
The test involves minimal risks, such as slight pain during blood draw. Emotional impact is possible, so counseling is advised.
Can this test be used for prenatal diagnosis?
This specific test is for diagnostic purposes. Prenatal testing may be available through specialized genetic services; consult a geneticist.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY. Check with your private insurance provider.
What should I do if my result is positive?
Consult a neurologist or geneticist for management options, therapy, and family support. Genetic counseling can help with family planning.
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.

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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