BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test
Short Name: BSCL2 Gene NGS Test
Also known as: Seipinopathy, BSCL2-related progressive encephalopathy, Progressive encephalopathy with or without lipodystrophy, BSCL2 gene mutation analysis
BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of BSCL2 gene encephalopathy. It is also used for carrier testing, presymptomatic testing for at-risk family members, and prenatal diagnosis in families with known BSCL2 mutations.
- Test Code
- 4056
- CPT Code
- 81406
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for confirmation
Sample Collection
No special preparation is required. Fasting is not necessary. A valid consent form for genetic testing must be signed. A genetic counselling session is recommended before the test.
Method: Peripheral venipuncture / Finger-prick for FTA card
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card collection, a few drops of blood will be placed on a filter paper card.
Report Delivery
The sample will be transported to the laboratory within 24 hours. No specific post-collection precautions are required.
Timeline: Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of BSCL2 gene encephalopathy. It is also used for carrier testing, presymptomatic testing for at-risk family members, and prenatal diagnosis in families with known BSCL2 mutations.
How to Prepare
- Use EDTA vacutainer for blood collection
- Do not freeze whole blood in syringe
- For FTA card, allow the blood spot to air dry completely before packing
- Label the sample immediately with patient details and unique ID
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis is essential for patients presenting with progressive neurological symptoms, as it guides management, genetic counselling, and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood without proper anticoagulant
- Insufficient quantity of sample
- Mislabeled or unlabeled sample
- Leaked container
- Sample received beyond the recommended stability period
Understanding Your Results
Positive
Pathogenic or likely pathogenic variant detected in BSCL2 gene. Confirms molecular diagnosis of BSCL2-related encephalopathy/lipodystrophy.
Negative
No clinically significant variant detected. A genetic cause due to BSCL2 is unlikely, but other genetic etiologies should be considered.
Variant of Uncertain Significance (VUS)
A variant has been identified but its clinical significance is unknown. Additional family studies/functional analysis may be required.
Consult a neurologist or medical geneticist if the patient experiences seizures, developmental regression, unexplained loss of motor skills, speech difficulties, or signs of lipodystrophy. If a BSCL2 mutation is identified in the family, genetic counselling is strongly advised.
Limitations
- ⚠This test detects only mutations in the BSCL2 gene; other genetic causes are not evaluated.
- ⚠Deep intronic variants, large deletions/duplications, and structural variations may not be identified by standard NGS.
- ⚠A negative result does not completely exclude a genetic cause.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bleeding, bruising, or infection at the venipuncture site
- ●No radiation or contrast use involved
- ●Psychological impact of a positive genetic result
- ●Potential for finding uncertain variants
Interfering Factors
- ●Improper sample handling or DNA degradation
- ●Contamination of sample
- ●Presence of maternal cell contamination in prenatal samples
- ●Genetic variants of uncertain significance (VUS) requiring additional analysis
- ●Incomplete coverage of certain genomic regions due to technical limitations
Compare With Similar Tests
| Test | BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test | ||
|---|---|---|---|
| Comparison | BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test |
Frequently Asked Questions
What is BSCL2 gene encephalopathy?
What does this NGS genetic test detect?
Is fasting required before the test?
How is the sample collected?
How much does the BSCL2 NGS test cost in India?
What is the turnaround time for reporting?
Is genetic counselling included in the test?
Can the test be done on an FTA card?
Does a negative result rule out the disease?
Who should order this test?
Will insurance cover the test?
How can I book this test?
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