Skip to main content
DNA Labs India

AP4S1 Gene SPG52 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AP4S1 Gene SPG52 NGS Genetic Test

Short Name: AP4S1 SPG52 Genetic Test

Also known as: Hereditary Spastic Paraplegia 52, SPG52, AP4S1-related disorder

AP4S1 Gene SPG52 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 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 52 (SPG52) by identifying pathogenic mutations in the AP4S1 gene using Next Generation Sequencing technology.

Test Code
1813
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and undergo genetic counseling as recommended.

Method: Venipuncture for blood sample or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample using appropriate kits.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Store samples as per instructions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain informed consent, and review family history.
2
During the Test:Sample collection procedure, typically blood draw, conducted by trained phlebotomist.
3
After the Test:Sample analysis in laboratory, report generation, and follow-up counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose Hereditary Spastic Paraplegia type 52 (SPG52) by identifying pathogenic mutations in the AP4S1 gene using Next Generation Sequencing technology.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow kit instructions for FTA card or blood collection

Doctor's Notes

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

"Genetic testing for SPG52 is crucial for early diagnosis and family planning, helping manage symptoms and understand inheritance risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample or FTA card collection

Sample Stability

Blood samples stable at room temperature for up to 48 hours
Extracted DNA stable for longer periods if stored properly

Understanding Your Results

Interpretation of results indicates the presence or absence of mutations in the AP4S1 gene, which are associated with Hereditary Spastic Paraplegia type 52.
Positive result: Pathogenic mutation detected, supporting diagnosis of SPG52
Negative result: No pathogenic variant found; clinical correlation recommended
Variant of uncertain significance (VUS): Further testing or family studies may be needed
Carrier status: Detection of one mutation in recessive cases
⚠️ When to Consult a Doctor:

If you or your child experience symptoms like muscle stiffness, walking difficulties, seizures, or developmental delays, or have a family history of SPG52, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Results require correlation with clinical findings and genetic counseling
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact from genetic results
  • ●Risk of uncertain results requiring further testing

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Technical errors in sequencing

Compare With Similar Tests

TestAP4S1 Gene SPG52 NGS Genetic TestSanger SequencingNeurological Genetic PanelWhole Exome Sequencing
ComparisonAP4S1 Gene SPG52 NGS Genetic Test

Frequently Asked Questions

What is the AP4S1 Gene SPG52 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to analyze the AP4S1 gene for mutations causing Hereditary Spastic Paraplegia type 52 (SPG52).
What are the symptoms of SPG52?
Common symptoms include difficulty walking, muscle stiffness, delayed motor development, intellectual disability, speech impairment, and seizures.
How is SPG52 diagnosed?
Diagnosis involves genetic testing, such as the AP4S1 Gene NGS test, along with clinical examination and sometimes MRI or EMG.
What is the cost of the AP4S1 Gene SPG52 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider getting tested for SPG52?
Individuals with symptoms of SPG52, a family history of the disorder, or those seeking genetic counseling.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the AP4S1 gene, confirming a diagnosis of SPG52 and aiding in management.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but genetic results may have psychological implications.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to discuss test implications, family history, and result interpretation.
How accurate is the AP4S1 Gene SPG52 NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but clinical correlation is essential.
Can this test be used for prenatal diagnosis?
Not typically; prenatal diagnosis may require additional validation and is discussed during genetic counseling.
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.