TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic Test
Short Name: CLN2 NGS Genetic Test
Also known as: CLN2 Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis, LINCL, Jansky-Bielschowsky Disease, TPP1 Deficiency
TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing Confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic Test is performed to confirm a clinical diagnosis of CLN2 disease by identifying pathogenic or likely pathogenic mutations in the TPP1 gene. The test is also used to detect carriers of TPP1 mutations within families, enabling informed genetic counselling and reproductive planning. Early molecular identification allows for timely initiation of available treatments and comprehensive multidisciplinary management.
- Test Code
- 1916
- CPT Code
- 81479
- ICD Code
- E75.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing Confirmation
Sample Collection
A pre-test genetic counselling session is recommended to document the clinical history of the patient, draw a pedigree chart of family members affected with ceroid lipofuscinosis neuronal type 2 or related disorders, and discuss the implications of testing. No fasting is required prior to sample collection.
Method: Venipuncture or Finger-prick (FTA Card)
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of venous blood in an EDTA (lavender-top) vacutainer tube. Alternatively, a single drop of blood on an FTA card or previously extracted DNA may be submitted. The sample must be properly labelled with the patient's name, date of birth, and unique identification number.
Report Delivery
After blood collection, gentle pressure should be applied to the puncture site with a cotton ball or gauze for 3 to 5 minutes to prevent bruising. The sample will be transported to DNA Labs India under appropriate conditions. Results will be available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp. A post-test genetic counselling session is strongly recommended to review and interpret results.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the DNA Labs India online portal, via email, and through WhatsApp for patient convenience.
Patient Instructions
About This Test
Who Should Get This Test
The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic Test is performed to confirm a clinical diagnosis of CLN2 disease by identifying pathogenic or likely pathogenic mutations in the TPP1 gene. The test is also used to detect carriers of TPP1 mutations within families, enabling informed genetic counselling and reproductive planning. Early molecular identification allows for timely initiation of available treatments and comprehensive multidisciplinary management.
How to Prepare
- No fasting is required before sample collection
- Blood should be collected in an EDTA (Lavender Top) vacutainer tube
- Alternatively, provide extracted DNA or one drop of blood on an FTA card
- Ensure the sample container is clearly labelled with patient name, date of birth, and sample ID
- Store the blood sample at ambient room temperature (15–30°C) until transport
- Transport the sample to the laboratory within 48 hours of collection
- Avoid freezing the whole blood sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a referring physician involved in reproductive health and family planning, I recommend the TPP1 Gene NGS Genetic Test for families with a history of neuronal ceroid lipofuscinosis or for couples identified as potential carriers. Early carrier identification enables informed reproductive decisions and prenatal or preimplantation genetic testing options. For children presenting with unexplained seizures and developmental regression, this test provides a definitive molecular diagnosis of CLN2 disease, which is critical for timely access to enzyme replacement therapy and multidisciplinary care planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Severely hemolyzed blood sample
- Insufficient sample volume (less than 1 mL of whole blood)
- Sample collected in incorrect tube type (non-EDTA)
- Sample without proper labelling or identification
- Sample received more than 7 days after collection at room temperature
- Contaminated or leaking sample container
Understanding Your Results
No Pathogenic Variants Detected (Negative)
No pathogenic or likely pathogenic variants were identified in the TPP1 gene. This result does not completely exclude CLN2 disease if clinical suspicion remains high, as some mutation types (e.g., large deletions, deep intronic variants) may not be detected by NGS. Clinical correlation and additional testing may be considered.
Pathogenic or Likely Pathogenic Variants Detected (Positive – Affected)
Biallelic (homozygous or compound heterozygous) pathogenic or likely pathogenic variants were identified in the TPP1 gene. This result confirms a molecular diagnosis of CLN2 disease. Genetic counselling is recommended to discuss disease management, available treatments, and implications for family members.
Single Pathogenic Variant Detected (Carrier)
A single pathogenic or likely pathogenic variant was identified in the TPP1 gene in a heterozygous state. This indicates the individual is a carrier of CLN2 disease. Carriers are typically unaffected but can pass the variant to their offspring. Genetic counselling and carrier testing of the partner is recommended for family planning.
Variant of Uncertain Significance (VUS) Detected
A variant of uncertain significance was identified in the TPP1 gene. The clinical significance of this variant cannot be determined at this time. Additional family studies, functional analysis, or follow-up testing may be needed for reclassification. Clinical management decisions should not be based solely on a VUS result.
Consult a neurologist, clinical geneticist, or pediatric specialist if your child presents with unexplained seizures, progressive loss of motor or cognitive abilities, developmental regression, speech delay, or unexplained visual impairment. If there is a known family history of neuronal ceroid lipofuscinosis or TPP1 mutations, seek genetic counselling before or during family planning. Early diagnosis and referral can facilitate timely access to enzyme replacement therapy and supportive care.
Limitations
- ⚠This test may not detect large genomic rearrangements, copy number variations (CNVs), or deep intronic mutations unless specifically validated for such detection
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require additional family studies or functional analysis for reclassification
- ⚠This test does not assess TPP1 enzyme activity levels; enzyme activity assays may be needed for biochemical confirmation
- ⚠Negative results do not completely exclude CLN2 if mutations lie outside the sequenced regions
- ⚠Results should always be interpreted in conjunction with clinical presentation and family history
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very small risk of infection at the venipuncture puncture site
- ●Lightheadedness or dizziness during or after blood draw
- ●Emotional or psychological impact of genetic test results for patients and family members
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing accuracy and coverage
- ●Recent blood transfusion (within 120 days) may interfere with results due to donor DNA
- ●Hemolyzed or improperly stored blood samples
- ●Contamination of the sample during collection or transport
Compare With Similar Tests
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Frequently Asked Questions
What is TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 (CLN2) disease?
What causes CLN2 disease?
Who should consider getting the TPP1 Gene NGS Genetic Test?
How is the TPP1 Gene NGS Genetic Test performed?
What sample is required for this test?
How long does it take to receive the test results?
What do positive and negative results mean?
Can this test identify carriers of CLN2 mutations?
Is genetic counselling recommended before and after the test?
Is there any treatment available for CLN2 disease?
Is home sample collection available for this test across India?
Will I receive raw data files along with the clinical test report?
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