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NT5C2 Gene SPG45 NGS Genetic Test

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NT5C2 Gene SPG45 NGS Genetic Test

Short Name: NT5C2 SPG45 NGS

Also known as: NT5C2 Gene Sequencing, SPG45 Genetic Test, NT5C2 Mutation Analysis

NT5C2 Gene SPG45 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 issued within 3 to 4 weeks from the date of sample receipt at the laboratory. The report includes the clinical interpretation and raw data files (FASTQ, VCF).. 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

The purpose of this test is to identify pathogenic mutations in the NT5C2 gene that are associated with SPG45, thereby confirming the clinical diagnosis and enabling early therapeutic and genetic counseling interventions.

Test Code
4536
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory. The report includes the clinical interpretation and raw data files (FASTQ, VCF).
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not necessary. The patient should provide any prior genetic testing reports, if available.

Method: Blood draw or dried blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein in the arm. For FTA cards, a simple finger-prick is performed to place a drop of blood on the card.

Step 3

Report Delivery

The sample is labeled and securely transported to the laboratory. Patients can resume normal activities immediately.

Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt at the laboratory. The report includes the clinical interpretation and raw data files (FASTQ, VCF).

Patient Instructions

1
Before the Test:Before undergoing this test, patients are advised to discuss their medical history, symptom progression, and family history with their healthcare provider. A genetic counseling session may be scheduled to draw a pedigree chart.
2
During the Test:During the test, a blood sample is collected or an FTA card is spotted. No anaesthesia is required. The NGS analysis takes place in the laboratory after sample collection.
3
After the Test:After the sample collection, patients can return to their normal routine. The laboratory will process the sample and issue a report in 3-4 weeks. The report will be shared via the selected delivery method.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the NT5C2 gene that are associated with SPG45, thereby confirming the clinical diagnosis and enabling early therapeutic and genetic counseling interventions.

How to Prepare

  • Ensure the FTA card is completely dried before placing in the provided sleeve.
  • Do not refrigerate or freeze FTA cards.
  • For blood samples, use the EDTA vacutainer provided by the lab.
  • Samples must be labeled with the patient's name and date of birth.

Doctor's Notes

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

"Genetic confirmation of SPG45 is crucial for patients and families as it enables accurate recurrence risk assessment and management planning. Early diagnosis can significantly improve neurological outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 ml blood / 5 µg DNA / FTA card spot
ContainerEDTA vacutainer / DNA elution tube / FTA card
Collection MethodBlood draw or dried blood spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable for several months at room temperature when stored dry
Sample Rejection Criteria:
  • Haemolysed or clotted blood sample
  • Improperly labeled samples
  • Samples received beyond the stability period
  • Inadequate DNA quantity or quality

Understanding Your Results

This genetic test provides information that should be interpreted in the context of clinical presentation and family history. A positive result confirms the diagnosis of SPG45, while a negative result does not exclude other hereditary spastic paraplegia subtypes.
Pathogenic variant detected: Confirms the diagnosis; family members at risk should be offered testing.
Likely pathogenic variant detected: Likely confirms the diagnosis; functional studies may be needed.
Variant of uncertain significance (VUS) detected: Additional family testing or further analysis is required.
No pathogenic variant detected: Does not rule out a genetic cause; broader genetic testing may be considered.
⚠️ When to Consult a Doctor:

If you or a family member experiences progressive leg weakness, muscle stiffness, difficulty walking, speech difficulties or intellectual delay, consult a neurologist for a comprehensive evaluation and consider genetic testing.

Limitations

  • ⚠NGS may not detect all mutation types such as large deletions, duplications, tri-nucleotide repeats, or mitochondrial mutations.
  • ⚠Variants of uncertain significance (VUS) may be reported and require further family studies.
  • ⚠This test is not able to predict the severity or progression of symptoms in all cases.
  • ⚠Genetic counseling is strongly recommended for interpretation of results.

Risks & Considerations

  • ●Mild pain, bruising, or bleeding at the venipuncture site
  • ●Slight risk of infection (rare and minimal with sterile techniques)
  • ●Emotional distress from unexpected genetic findings

Interfering Factors

  • ●Blood transfusion within the last 6 months
  • ●Bone marrow transplantation
  • ●Contaminated or degraded DNA sample
  • ●Maternal cell contamination when analysing amniotic fluid or chorionic villus samples

Compare With Similar Tests

TestNT5C2 Gene SPG45 NGS Genetic TestHereditary Spastic Paraplegia NGS PanelWhole Exome Sequencing (WES)Targeted NT5C2 Sanger Sequencing
ComparisonNT5C2 Gene SPG45 NGS Genetic Test

Frequently Asked Questions

What is the NT5C2 Gene SPG45 NGS Genetic Test?
The NT5C2 Gene SPG45 NGS Genetic Test is a Next-Generation Sequencing-based test that analyzes the NT5C2 gene to detect pathogenic mutations responsible for SPG45, a rare hereditary spastic paraplegia.
What conditions does this test diagnose?
This test diagnoses SPG45 (Spastic Paraplegia Type 45), a rare neurological disorder characterized by difficulty walking, muscle stiffness, leg weakness, speech problems, and intellectual disability.
How much does the NT5C2 Gene SPG45 NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India. The price includes genetic counseling, NGS analysis, clinical report, and raw data files.
What sample is required for this test?
The patient can provide a blood sample in an EDTA vacutainer, extracted DNA, or a single drop of blood on an FTA card. All are acceptable for the NGS test.
Do I need to fast before the test?
No fasting is required. The test can be taken at any time of the day.
How long does it take to get the reports?
Reports are delivered within 3 to 4 weeks from the date of sample collection. Delivery is made through the patient portal, email, or WhatsApp.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for this test across more than 200 cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and Chennai.
What is NGS technology?
NGS (Next-Generation Sequencing) is a high-throughput technology that sequences multiple DNA fragments simultaneously, enabling fast and accurate detection of mutations in a gene or panel.
Will I receive raw data files?
Yes, DNA Labs India is transparent and will provide raw data files, including FASTQ and VCF, along with the conclusive clinical report for the NT5C2 Gene SPG45 NGS Genetic Test.
Are there any risks from this test?
The test is safe. Blood collection may cause minor discomfort or bruising at the needle site. There are no significant health risks.
Who should consider this genetic test?
Individuals with symptoms suggestive of hereditary spastic paraplegia, a family history of SPG45, or those with an unexplained neurological presentation may consider this test. Clinical evaluation by a neurologist is advised first.
Is the test covered by medical insurance?
Currently, this genetic test is generally not covered under major insurance schemes like PMJAY, CGHS, ECHS, or ESIC. It may be covered by some private insurance policies depending on individual terms and pre-authorization.
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.

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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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