Lysosomal Storage Disorder Gene Panel Test
Short Name: LSD Gene Panel
Also known as: LSD Panel, Lysosomal Storage Disease Gene Panel
Lysosomal Storage Disorder Gene Panel Test test available at DNA Labs India for ₹36,000. Uses Next Generation Sequencing (NGS) on Peripheral blood, Amniotic fluid, Chorionic villi samples. Results in Reports are typically available within 4-6 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the Lysosomal Storage Disorder Gene Panel is to identify pathogenic variants in genes associated with LSDs. This aids in confirming a diagnosis, guiding treatment decisions, providing prognostic information, and enabling genetic counseling for affected families. It can also be used for carrier testing and prenatal diagnosis in at-risk pregnancies.
- Test Code
- 6125
- CPT Code
- 81408
- ICD Code
- E75.2
- Price
- ₹36,000
- Sample Type
- Peripheral blood, Amniotic fluid, Chorionic villi
- Result Time
- Reports are typically available within 4-6 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A doctor's prescription is recommended. For prenatal samples, the procedure will be performed by a specialist.
Method: Venipuncture or amniocentesis/CVS
Laboratory Analysis
Blood sample is drawn from a vein. For amniotic fluid or CVS, a sterile procedure is performed by a gynecologist.
Report Delivery
No specific aftercare is needed. For prenatal procedures, follow your doctor's advice regarding rest and activity.
Timeline: Reports are typically available within 4-6 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Lysosomal Storage Disorder Gene Panel is to identify pathogenic variants in genes associated with LSDs. This aids in confirming a diagnosis, guiding treatment decisions, providing prognostic information, and enabling genetic counseling for affected families. It can also be used for carrier testing and prenatal diagnosis in at-risk pregnancies.
How to Prepare
- Blood sample: Collect in EDTA vacutainer, mix gently
- Amniotic fluid: Collect in sterile container, avoid contamination
- Chorionic villi: Collect in sterile container with transport medium
- Transport samples at 2-8°C (cool pack) to the laboratory
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis of LSDs is critical for timely intervention and management. This panel covers a wide range of genes associated with these disorders, aiding in accurate diagnosis and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Sample not stored at appropriate temperature
- Maternal cell contamination in prenatal samples
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of the corresponding lysosomal storage disorder. Genetic counseling is recommended.
Likely pathogenic variant detected
Highly suggestive of the disorder; further testing may be needed to confirm.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family segregation analysis may be recommended.
No pathogenic variants detected
Does not rule out an LSD; other genetic or biochemical tests may be considered.
Consult a doctor if you or your child experience symptoms such as developmental delay, seizures, organ enlargement, or unexplained neurological issues. Also, if there is a family history of LSDs, genetic counseling is advised.
Limitations
- ⚠This panel does not detect all possible genetic causes of LSDs; some rare genes may not be included
- ⚠Variants of uncertain significance may be reported, which require further investigation
- ⚠Not recommended for diagnosis of non-genetic causes of similar symptoms
- ⚠Prenatal testing requires prior genetic counseling and appropriate consent
Risks & Considerations
- ●Blood draw: minimal risk of bruising or infection
- ●Amniocentesis/CVS: small risk of miscarriage or infection (performed by specialist)
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal samples
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion (within 2 weeks) may affect results
- ●Bone marrow transplantation may lead to false negative results
Compare With Similar Tests
| Test | Lysosomal Storage Disorder Gene Panel | Single Gene Testing | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | Lysosomal Storage Disorder Gene Panel | Targets a specific gene based on clinical suspicion. Less comprehensive but may be faster and cheaper. | Analyzes all coding regions of genes. More comprehensive but higher cost and longer turnaround time. |
Frequently Asked Questions
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