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DNA Labs India

Sphingolipidosis Panel 3 Test

DNA Labs India | ISO 9001:2015 Certified

Sphingolipidosis Panel 3 Test

Short Name: SLP3

Also known as: Sphingolipidosis Panel 3

Sphingolipidosis Panel 3 Test test available at DNA Labs India for ₹7,000. Uses Enzyme Assay on Whole Blood samples. Results in Reports are available within 4 days after sample submission.. Free home collection in 300+ cities across India.

Enzyme Assay🏠 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 diagnose specific types of sphingolipidosis, namely GM1 Gangliosidosis, Gaucher Disease, and Niemann-Pick Disease, using enzyme assays.

Test Code
3660
ICD Code
E75.3
Price
₹7,000
Sample Type
Whole Blood
Result Time
Reports are available within 4 days after sample submission.
Fasting Required
No
Method
Enzyme Assay
Step 1

Sample Collection

Give brief clinical history.

Method: Blood draw

Step 2

Laboratory Analysis

Standard venipuncture procedure will be followed.

Step 3

Report Delivery

Sample should be shipped refrigerated within 48 hours. Do not freeze.

Timeline: Reports are available within 4 days after sample submission.

Patient Instructions

1
Before the Test:Provide relevant clinical history and any prior lab test results. No fasting is required.
2
During the Test:A blood sample will be drawn from a vein in your arm.
3
After the Test:You may resume normal activities immediately. The sample will be transported to the laboratory under refrigerated conditions.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose specific types of sphingolipidosis, namely GM1 Gangliosidosis, Gaucher Disease, and Niemann-Pick Disease, using enzyme assays.

How to Prepare

  • Give brief clinical history
  • Ship refrigerated within 48 hrs
  • Do not freeze
  • Use EDTA or Sodium Heparin tubes

Doctor's Notes

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

"This panel is a valuable tool for early diagnosis of sphingolipidoses, allowing timely intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (7.5 mL min.)
Container3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes
Collection MethodBlood draw

Sample Stability

Room Temperature: NA
Refrigerator: 48 hrs
Frozen: NA
Sample Rejection Criteria:
  • Sample received frozen
  • Insufficient volume (less than 7.5 mL)
  • Sample unrefrigerated for more than 48 hours

Understanding Your Results

This panel measures enzyme activity for three sphingolipidoses. Results are interpreted based on enzyme activity levels compared to the laboratory's reference intervals.
Decreased beta-galactosidase activity suggests GM1 Gangliosidosis.
Decreased glucocerebrosidase activity suggests Gaucher Disease.
Decreased sphingomyelinase activity suggests Niemann-Pick Disease.
Results should be correlated with clinical symptoms and may require confirmatory genetic testing.
⚠️ When to Consult a Doctor:

If the test result is positive or symptoms persist, consult a geneticist or pediatrician for further evaluation and genetic counseling.

Risks & Considerations

  • ●Possible bruising at the venipuncture site
  • ●Lightheadedness or dizziness
  • ●Rare risk of infection or excessive bleeding

Interfering Factors

  • ●Sample received frozen
  • ●Hemolyzed or clotted sample
  • ●Sample not refrigerated within 48 hours

Frequently Asked Questions

What is the Sphingolipidosis Panel 3 Test?
The Sphingolipidosis Panel 3 Test is a diagnostic genetic test that helps detect sphingolipidosis, a group of inherited disorders affecting sphingolipid metabolism. It is used to identify specific types such as GM1 Gangliosidosis, Gaucher Disease, and Niemann-Pick Disease.
What sample is required?
A whole blood sample of 10 mL (7.5 mL min.) is collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes. The sample must be shipped refrigerated within 48 hours and should not be frozen.
Do I need to fast for this test?
No. Fasting is not required. However, a brief clinical history must accompany the sample.
What is the cost of the test?
The Sphingolipidosis Panel 3 Test costs INR 7000 at DNA Labs India. Special discounted pricing is offered for online bookings, and free home sample collection is available.
When will I get the report?
The sample is received daily by 4 pm, and the report is available within 4 days.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings of this test in multiple cities across India.
What is the purpose of this test?
The purpose is to diagnose GM1 Gangliosidosis, Gaucher Disease, and Niemann-Pick Disease through enzyme assay.
What are the common symptoms of sphingolipidosis?
Symptoms may include developmental delay, seizures, enlarged spleen and liver, bone abnormalities, difficulty walking, blindness or vision problems, and difficulty swallowing.
Who should undergo this test?
The test may be recommended by a pediatrician or geneticist for individuals showing symptoms of sphingolipidosis or those with a family history of lysosomal storage disorders.
How is the test performed?
The test is performed using an enzyme assay method on a blood sample. It measures enzyme activity to detect deficiencies associated with specific sphingolipidoses.
Can this test be done for children?
Yes, the test is commonly recommended for children, as the disorder often presents in infancy or childhood. A pediatrician may request the test.
What is the mode of inheritance of sphingolipidoses?
Most sphingolipidoses are inherited in an autosomal recessive manner, but Fabry disease is X-linked recessive. The incidence is approximately 1 in 10,000 but higher in certain populations like Ashkenazi Jews.
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

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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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