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DNA Labs India

Sphingo Enzyme Panel NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

Sphingo Enzyme Panel NGS Genetic Test

Short Name: Sphingo Enzyme Panel NGS

Also known as: Sphingolipid Enzyme Panel NGS Test, Sphingolipid Genetic Panel

Sphingo Enzyme Panel 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 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

The purpose of the Sphingo Enzyme Panel NGS Genetic Test is to detect mutations in genes encoding sphingolipid enzymes, aiding in the diagnosis of related disorders, guiding treatment decisions, and informing genetic counseling for families at risk.

Test Code
1862
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

Clinical history review and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Venipuncture for blood or FTA card sample collection

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or FTA card sample collection at ambient room temperature.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis and report generation.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss implications and family history.
2
During the Test:Sample collection process: blood draw or FTA card application.
3
After the Test:Results are delivered in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the Sphingo Enzyme Panel NGS Genetic Test is to detect mutations in genes encoding sphingolipid enzymes, aiding in the diagnosis of related disorders, guiding treatment decisions, and informing genetic counseling for families at risk.

How to Prepare

  • Use EDTA tube for blood samples
  • Store samples at ambient room temperature
  • Label samples correctly with patient details
  • For FTA card, apply one drop of blood and let dry

Doctor's Notes

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

"This test is crucial for diagnosing sphingolipid disorders, guiding treatment, and informing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood or FTA card sample collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended period if stored properly
Sample Rejection Criteria:
  • Hemolyzed or degraded samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Interpretation of genetic test results requires analysis by qualified genetics professionals to determine clinical relevance.
Positive result: Pathogenic mutation detected, indicating increased risk for sphingolipid disorders
Negative result: No pathogenic variants found in the analyzed genes
Variant of uncertain significance: Further testing or family studies recommended for clarification
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if test results are positive, symptoms persist, or for family planning and genetic counseling.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Interpretation requires expert genetic counseling
  • ⚠Limited to analyzed gene panel

Risks & Considerations

  • ●Bruising at blood draw site
  • ●Minor infection risk
  • ●Dizziness during blood collection

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Technical artifacts from sequencing

Compare With Similar Tests

TestSphingo Enzyme Panel NGS Genetic TestGaucher Disease Genetic TestNiemann-Pick Disease PanelLysosomal Storage Disorder Panel
ComparisonSphingo Enzyme Panel NGS Genetic Test

Frequently Asked Questions

What is the Sphingo Enzyme Panel NGS Genetic Test?
It is a comprehensive genetic test that analyzes mutations in genes responsible for producing sphingolipid enzymes, which are critical for cellular functions.
How is the test performed?
The test uses next-generation sequencing (NGS) technology to analyze DNA from blood or FTA card samples, identifying mutations in sphingolipid enzyme genes.
What are the symptoms of sphingolipid enzyme mutations?
Symptoms can include developmental delays, neurological disorders like seizures and ataxia, metabolic diseases such as Gaucher and Niemann-Pick disease, and certain cancers.
What is the cost of the Sphingo Enzyme Panel NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, genetic analysis, and a detailed report.
Is the test covered by insurance?
Yes, the test is covered by most insurance plans, but coverage may vary; check with your provider for specific details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What samples are required for the test?
Samples can be blood collected in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Why choose DNA Labs India for this test?
DNA Labs India offers accurate and reliable results with NGS technology, home sample collection, and transparent sharing of raw data and reports.
What are the limitations of the test?
The test may not detect all genetic variants, and interpretation requires genetic counseling. It is limited to the analyzed gene panel.
How should I prepare for the test?
No fasting is required, but provide clinical history and attend a genetic counseling session for pedigree chart preparation.
What do the test results mean?
Results indicate the presence or absence of pathogenic mutations in sphingolipid enzyme genes, guiding diagnosis and treatment; always consult a geneticist for interpretation.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a healthcare provider for prenatal genetic testing options.
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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