Lysosomal Storage Disorder Gene Panel Test: Booking, Price, and Results
About Lysosomal Storage Disorder Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | LSD Gene Panel, Lysosomal Storage Diseases Gene Panel, LSD NGS Panel |
| Sample Type | Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | Infants, children, and adults with clinical suspicion of lysosomal storage disorders; prenatal testing for at-risk pregnancies |
| Price | Starting at ₹21,600 |
What is a Lysosomal Storage Disorder Gene Panel Test?
The Lysosomal Storage Disorder Gene Panel Test is a genetic test that examines multiple genes associated with lysosomal storage diseases (LSDs). Lysosomes are small structures inside cells that break down waste materials; when genes controlling this process are faulty, harmful substances build up inside cells, causing progressive organ damage. This test uses next-generation sequencing (NGS) to identify disease-causing gene variants, and is also known as the LSD Gene Panel or LSD NGS Panel. Samples used may include peripheral blood, chorionic villus tissue, or amniotic fluid, depending on the clinical situation.
What Does a Lysosomal Storage Disorder Gene Panel Test Measure?
The Lysosomal Storage Disorder Gene Panel test analyses 50 or more genes simultaneously using NGS technology. Each gene is linked to a specific storage disorder. The key genes covered include:
| Gene | Associated Condition |
|---|---|
| GBA1 | Gaucher disease (fat storage affecting the spleen, liver, and bone marrow) |
| GAA | Pompe disease (glycogen storage affecting muscles) |
| IDUA | Mucopolysaccharidosis type I / Hurler syndrome |
| GLA | Fabry disease (affecting the kidneys, heart, and nervous system) |
| HEXA / HEXB | Tay-Sachs and Sandhoff diseases (affecting the brain) |
| ARSA | Metachromatic leukodystrophy (affecting brain white matter) |
| GALC | Krabbe disease (affecting the nervous system) |
| SMPD1 | Niemann-Pick disease types A and B |
| NPC1 / NPC2 | Niemann-Pick disease type C |
| Additional genes | AGA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, GALNS, GLB1, GNPTAB, GUSB, IDS, LAMP2, LIPA, MAN2B1, NAGLU, NEU1, PPT1, SGSH, SLC17A5, TPP1, and others |
Why is a Lysosomal Storage Disorder Gene Panel Test Done?
This test is requested when a doctor suspects an inherited storage disorder based on a patient's symptoms, family history, or inconclusive previous tests.
Common Symptoms That May Require This Test
The following clinical features may prompt a doctor to order this test:
- Developmental delay or regression in infants or children
- Intellectual disability or loss of previously acquired skills
- Unexplained low muscle tone (hypotonia) or unsteady movement (ataxia)
- Enlarged liver or spleen detected on examination or imaging
- Unusual facial features (coarser facial appearance)
- Progressive vision or hearing loss without a clear cause
- Fluid accumulation in a foetus (hydrops fetalis) detected during pregnancy
Conditions This Test Can Help Detect
Lysosomal storage diseases affect roughly 1 in 5,000 to 8,000 individuals worldwide. This panel can help identify:
- Sphingolipidoses (e.g., Gaucher, Fabry, Tay-Sachs, Niemann-Pick diseases)
- Mucopolysaccharidoses (e.g., Hurler syndrome and related conditions)
- Glycoproteinoses and glycogen storage disorders (e.g., Pompe disease)
- Neuronal ceroid lipofuscinoses (affecting the nervous system)
- Other rare inherited metabolic disorders affecting lysosomal function
Lysosomal Storage Disorder Gene Panel Test During Pregnancy
Prenatal diagnosis of lysosomal storage disorders is possible using chorionic villus samples or amniotic fluid, once a disease-causing variant has been identified in an affected family member. This allows families with a known LSD history to plan pregnancies with more information. Genetic counselling is an important part of prenatal testing for these conditions.
How to Prepare and What to Expect
Preparation for this test is straightforward, though the sample type will depend on whether testing is postnatal or prenatal.
Do You Need to Fast?
No fasting is required for this test. You may eat and drink normally before sample collection.
Practical Tips Before Your Test
The following points will help ensure your sample is accepted and results are accurate:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Inform your doctor about any recent blood transfusions or bone marrow transplants, as these can affect DNA results
- For prenatal sample collection (CVS or amniotic fluid), follow the specific instructions given by your obstetrician or foetal medicine specialist
- Ensure sample tubes or containers are clearly labelled with the patient's name and date of birth
- Wear comfortable, loose-fitting clothing with easy access to your arm if a blood draw is needed
Step-by-Step Procedure
The Lysosomal Storage Disorder Gene Panel test procedure varies slightly depending on the sample type.
For peripheral blood collection:
- A trained phlebotomist cleans a vein in your arm and draws approximately 3 ml of blood into an EDTA tube (a lavender-top tube containing a preservative).
- The tube is labelled and stored at the correct temperature for transport.
- The sample is dispatched to the NABL-accredited laboratory.
- In the lab, genomic DNA is extracted from the blood sample.
- The DNA is processed using NGS technology, where target genes are captured and sequenced.
- Results are reviewed and interpreted by clinical geneticists, and a report is issued within 35 days.
For chorionic villus (CVS) or amniotic fluid collection (prenatal):
- A foetal medicine specialist or obstetrician performs the procedure in a clinical setting.
- For CVS, a small sample of chorionic villus tissue (approximately 30 mg) is collected using a needle or catheter and placed in a sterile white container.
- For amniotic fluid, approximately 20 ml is collected via amniocentesis and placed in a dedicated Falcon tube.
- Both sample types are refrigerated (2 to 8 degrees Celsius) and dispatched to the laboratory on the same day, Monday through Saturday.
- DNA extraction and NGS analysis are carried out in the laboratory.
- A report is issued within 35 days.
Factors That Can Affect Accuracy
The following factors may affect the reliability of results:
- Recent blood transfusion or allogeneic bone marrow or stem cell transplant (donor DNA may be present)
- Insufficient sample volume or poor sample quality
- An incomplete or absent clinical history submitted with the sample
- Certain gene variants called pseudodeficiency alleles (variants that reduce enzyme activity without causing disease) may complicate result interpretation
- Some complex variants, such as deep intronic mutations, may not be detected by NGS
Understanding Your Lysosomal Storage Disorder Gene Panel Test Results
Results should always be reviewed together with a doctor or clinical geneticist who can place findings in the context of your clinical picture and family history.
| Result Type | Interpretation |
|---|---|
| No pathogenic variants detected | Significantly reduces but does not completely eliminate the possibility of an LSD |
| Pathogenic or likely pathogenic variant detected | Indicates a genetic diagnosis; confirmatory enzyme testing may follow |
| A variant of uncertain significance (VUS) reported | Clinical relevance is currently unclear; further studies or family testing may be needed |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Two specific situations can affect how results are interpreted:
- Enzyme pseudodeficiency is a known phenomenon in several genes, including ARSA, HEXA, and GAA, where a gene variant reduces enzyme activity without causing any clinical disease. This can make interpretation more complex and may require additional testing.
- A history of allogeneic bone marrow or stem cell transplant may introduce donor DNA into the blood sample, potentially affecting the accuracy of results. Inform your doctor before the test if this applies to you.
How to Maintain Healthy Levels
While genetic test results cannot be changed, the following steps support overall well-being after a diagnosis:
- Follow the management plan recommended by your metabolic specialist or treating doctor, which may include enzyme replacement therapy or other available treatments.
- Connect with a genetic counsellor to understand how the condition may affect other family members and what options exist for future family planning.
- Keep all medical records, previous test reports, and family history documentation organised and accessible for specialist consultations.
Lupin Diagnostics Lysosomal Storage Disorder Gene Panel Test Price
The Lysosomal Storage Disorder Gene Panel Test is priced starting at ₹21,600 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or a scheduled sample collection through a clinical referral; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your Lysosomal Storage Disorder Gene Panel test online is straightforward:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The Lysosomal Storage Disorder Gene Panel Test uses next-generation sequencing to examine multiple genes simultaneously for variants that cause lysosomal storage diseases. It is suited to patients with clinical features suggesting any LSD or those with inconclusive results from enzyme activity tests. The panel covers over 50 genes linked to a wide range of storage disorders.
This test is recommended for infants, children, or adults with symptoms such as developmental delay, enlarged organs, unexplained neurological decline, or unusual physical features suggesting an inherited metabolic disorder. It is also relevant for families with a confirmed LSD diagnosis who are planning a pregnancy.
For postnatal testing, a peripheral blood sample of 3 ml is collected in an EDTA tube. For prenatal testing, a chorionic villus sample or amniotic fluid may be used, collected by a specialist in a clinical setting. Your doctor will advise which sample type is appropriate for your situation.
At Lupin Diagnostics, the report is delivered within 35 days. NGS-based genetic panels require time for DNA extraction, sequencing, and expert interpretation, which is why the turnaround is longer than routine blood tests.
A positive result identifying a pathogenic variant strongly supports a diagnosis and guides further management. In many cases, confirmatory enzyme activity testing is also recommended. A negative result significantly reduces the likelihood of an LSD but does not completely rule it out, as some variants may not be detected by NGS.
Your doctor may refer you to a metabolic specialist or clinical geneticist for further evaluation. For several LSDs, treatment options such as enzyme replacement therapy are available. Family members may also be advised to undergo targeted genetic testing. Genetic counselling is recommended to understand the implications for you and your family.
Coverage depends on your individual health insurance policy. Genetic tests for rare inherited conditions are included under some policies, particularly those covering rare diseases. Check directly with your insurer before booking to understand your benefit entitlements.
Lysosomal Storage Disorder Gene Panel Test: Booking, Price, and Results
