Skip to main content
DNA Labs India

CYP2U1 Gene SPG56 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CYP2U1 Gene SPG56 NGS Genetic Test

Also known as: Hereditary Spastic Paraplegia Type 56

CYP2U1 Gene SPG56 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.

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

The purpose of this test is to detect mutations in the CYP2U1 gene that cause SPG56, aiding in diagnosis and carrier identification for individuals with symptoms or family history of hereditary spastic paraplegia.

Test Code
1817
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

Genetic counseling and clinical history review recommended before testing.

Method: Blood Draw or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedures.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended before testing.
2
During the Test:Blood sample or FTA card collection for genetic analysis.
3
After the Test:Sample analyzed using NGS technology; report delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CYP2U1 gene that cause SPG56, aiding in diagnosis and carrier identification for individuals with symptoms or family history of hereditary spastic paraplegia.

How to Prepare

  • Provide detailed clinical history of the patient
  • Conduct a genetic counseling session to draw a pedigree chart of family members affected
  • Ensure proper sample collection and handling

Doctor's Notes

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

"Genetic testing for SPG56 can aid in family planning and early diagnosis. Consult a genetic counselor for comprehensive advice."

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 FTA Card

Understanding Your Results

Interpretation of results should be performed by a qualified geneticist or physician with expertise in genetic disorders.
Positive result: Pathogenic mutation in CYP2U1 gene detected, confirming diagnosis of SPG56.
Negative result: No pathogenic variants found; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of SPG56 are present, for family planning advice, or after receiving test results for further management.

Risks & Considerations

  • ●Minor bruising or infection at puncture site

Frequently Asked Questions

What is SPG56?
SPG56 is a rare subtype of hereditary spastic paraplegia (HSP), a genetic disorder affecting the nervous system, causing progressive weakness and spasticity in the lower limbs.
What causes SPG56?
SPG56 is caused by mutations in the CYP2U1 gene, which is inherited in an autosomal recessive pattern.
What are the symptoms of SPG56?
Symptoms include difficulty walking, stiffness and spasticity in the legs, weakness, balance and coordination issues, speech difficulties, and muscle wasting in the legs, typically beginning in childhood.
How is SPG56 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the CYP2U1 Gene SPG56 NGS Genetic Test, to identify mutations in the CYP2U1 gene.
What is the CYP2U1 Gene SPG56 NGS Genetic Test?
It is a comprehensive genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CYP2U1 gene associated with SPG56, aiding in diagnosis and carrier identification.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How much does the test cost?
The cost of the CYP2U1 Gene SPG56 NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
This test may not be covered by insurance; DNA Labs India offers affordable pricing and financing options.
Who should consider this test?
Individuals with symptoms of SPG56, those with a family history of the disorder, or for carrier testing and family planning purposes.
What should I do before taking the test?
A genetic counseling session to review clinical history and draw a pedigree chart of affected family members is recommended before testing.
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.