PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test
Short Name: PPT1 CLN1 NGS Test
Also known as: PPT1 Gene Mutation Analysis, CLN1 Genetic Test, Infantile Neuronal Ceroid Lipofuscinosis NGS Test, Santavuori-Haltia Disease Genetic Test, Batten Disease PPT1 Gene Test
PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis 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 via the online portal, email, and WhatsApp.. 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 primary purpose of the PPT1 Gene CLN1 NGS Genetic Test is to confirm or rule out a molecular diagnosis of neuronal ceroid lipofuscinosis type 1 in individuals presenting with compatible clinical features such as seizures, developmental regression, vision loss, and progressive neurological deterioration. This test is used for diagnostic confirmation, carrier screening in families with known mutations, prenatal or preimplantation genetic diagnosis for at-risk pregnancies, and genetic counseling to determine inheritance patterns and recurrence risk for family members.
- Test Code
- 1911
- CPT Code
- 81406
- 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 via the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis
Sample Collection
No special preparation or fasting is required. A genetic counseling session is recommended before sample collection to draw a pedigree chart of family members affected with CLN1 and to document the clinical history of the patient. Ensure informed consent is obtained.
Method: Venipuncture
Laboratory Analysis
A peripheral venous blood sample of 3-5 mL is collected in an EDTA (lavender top) vacutainer under aseptic conditions. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample is labeled with patient identifiers and transported to the laboratory under ambient room temperature conditions.
Report Delivery
The sample is processed in the molecular genetics laboratory for DNA extraction, library preparation, and NGS sequencing. Reports are typically available within 3 to 4 weeks. A post-test genetic counseling session is recommended to interpret the findings and discuss management options.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the PPT1 Gene CLN1 NGS Genetic Test is to confirm or rule out a molecular diagnosis of neuronal ceroid lipofuscinosis type 1 in individuals presenting with compatible clinical features such as seizures, developmental regression, vision loss, and progressive neurological deterioration. This test is used for diagnostic confirmation, carrier screening in families with known mutations, prenatal or preimplantation genetic diagnosis for at-risk pregnancies, and genetic counseling to determine inheritance patterns and recurrence risk for family members.
How to Prepare
- Collect 3-5 mL of peripheral venous blood in an EDTA (lavender top) vacutainer
- Alternatively, one drop of blood on an FTA card or previously extracted DNA is acceptable
- Label the sample clearly with patient name, date of birth, and unique identifier
- Transport the sample at ambient room temperature; do not freeze
- Ensure the requisition form includes detailed clinical history and pedigree information
- Obtain signed informed consent prior to sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PPT1 gene mutations cause infantile neuronal ceroid lipofuscinosis (CLN1), one of the most severe forms of Batten disease. Early molecular diagnosis through NGS is critical for confirming the clinical suspicion, enabling appropriate genetic counseling for families regarding recurrence risk, and facilitating informed reproductive decision-making. Families with a confirmed diagnosis can also be connected to emerging clinical trials and supportive care networks. I strongly recommend pre-test and post-test genetic counseling for all families considering this test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or inadequately labeled samples
- Samples received without completed requisition form or informed consent
- Samples collected in incorrect anticoagulant (e.g., heparin tubes)
- Insufficient sample volume for DNA extraction
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected (Homozygous or Compound Heterozygous)
Confirms the diagnosis of neuronal ceroid lipofuscinosis type 1 (CLN1). Both copies of the PPT1 gene carry disease-causing mutations. This is consistent with autosomal recessive inheritance. Genetic counseling for the family is recommended.
Pathogenic or Likely Pathogenic Variant Detected (Heterozygous – Single Variant)
The individual is a carrier of one pathogenic PPT1 variant. Carrier testing of parents and siblings may be recommended. A second variant may be present in a region not covered by this test; additional testing such as MLPA may be considered.
Variant of Uncertain Significance (VUS) Detected
A genetic variant was identified but there is currently insufficient evidence to classify it as pathogenic or benign. Family studies, functional analysis, and clinical correlation are recommended. This result alone is not diagnostic.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the PPT1 gene coding regions and exon-intron boundaries. This result reduces the likelihood of CLN1 but does not completely exclude it, as deep intronic, regulatory, or large structural variants may not be detected. Clinical correlation and further investigation may be warranted.
Consult a healthcare professional or clinical geneticist if your child or family member is experiencing seizures, unexplained developmental regression, progressive vision loss, loss of previously acquired motor skills, muscle stiffness, behavioral changes, or difficulty swallowing. Early referral for genetic evaluation and counseling is essential for accurate diagnosis, appropriate management, and informed family planning.
Limitations
- ⚠This test does not detect large genomic deletions, duplications, or structural rearrangements in the PPT1 gene; additional MLPA or array-based testing may be required
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further family studies or functional analysis for reclassification
- ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing region are not covered
- ⚠This test does not evaluate other NCL-associated genes unless specifically ordered as a panel
Risks & Considerations
- ●Minimal physical risk from blood draw: mild pain, bruising, or rarely infection at the venipuncture site
- ●Potential psychological and emotional impact of receiving a diagnosis of a progressive neurodegenerative disorder
- ●Potential implications for family members including carrier status identification and reproductive planning
- ●Risk of identifying Variants of Uncertain Significance (VUS) which may cause anxiety without providing definitive answers
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Hemolyzed or clotted blood samples may affect DNA extraction yield
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Mosaicism at low levels may not be reliably detected
Compare With Similar Tests
| Test | PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test | CLN2 (TPP1) Gene NGS Test | CLN3 Gene NGS Test | CLN5 Gene NGS Test | NCL Gene Panel (Comprehensive) | Lysosomal Storage Disorders Panel |
|---|---|---|---|---|---|---|
| Comparison | PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test | CLN2 is caused by mutations in the TPP1 gene and typically presents between ages 2-4 with seizures and language delay. It is the most common late-infantile form of NCL. Different gene, different enzyme (tripeptidyl peptidase 1), and later onset compared to CLN1. | CLN3 causes juvenile NCL (Spielmeyer-Vogt disease) with onset around age 4-7, primarily characterized by vision loss followed by cognitive decline and seizures. Caused by mutations in the CLN3 gene. Later onset and slower progression compared to CLN1. | CLN5 causes a variant late-infantile form of NCL, typically presenting between ages 4-7. Mutations in the CLN5 gene lead to a soluble lysosomal protein deficiency. Different clinical timeline compared to infantile CLN1. | A comprehensive NCL gene panel simultaneously analyzes multiple NCL-associated genes (PPT1, TPP1, CLN3, CLN5, CLN6, CLN7, CLN8, and others) and is recommended when the specific NCL subtype is uncertain based on clinical presentation alone. | A broader panel that includes PPT1 and other genes associated with lysosomal storage disorders. Useful when clinical features overlap between different lysosomal conditions or when the specific diagnosis is unclear. |
Frequently Asked Questions
What is the PPT1 Gene CLN1 NGS Genetic Test?
What is CLN1 (Ceroid Lipofuscinosis Neuronal Type 1)?
Who should get the PPT1 Gene CLN1 NGS Genetic Test?
What sample is required for the PPT1 Gene CLN1 NGS Genetic Test?
How much does the PPT1 Gene CLN1 NGS Genetic Test cost in India?
How long does it take to get the results of the PPT1 Gene CLN1 NGS Genetic Test?
Is home sample collection available for this test?
What is the difference between CLN1 and other types of Batten disease?
What does a positive result mean?
What does a negative result mean?
Does DNA Labs India provide raw genomic data files along with the report?
Is genetic counseling required before and after the test?
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