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CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic Test

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CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic Test

Short Name: CLN10 NGS Genetic Test

Also known as: CLN10 Disease, Cathepsin D Deficiency, CTSD-Related Neuronal Ceroid Lipofuscinosis, CLN10 Batten Disease, Congenital NCL

CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 collection.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the CTSD Gene CLN10 NGS Genetic Test is to identify pathogenic mutations in the CTSD gene to confirm a diagnosis of ceroid lipofuscinosis neuronal type 10 (CLN10). This test aids clinicians in establishing a definitive molecular diagnosis, differentiating CLN10 from other neurological conditions with overlapping symptoms, guiding clinical management strategies, facilitating genetic counseling for affected families, and enabling carrier identification for reproductive planning.

Test Code
1921
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 collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended prior to testing to discuss the purpose of the test, implications of possible results, and to draw a pedigree chart of family members affected with ceroid lipofuscinosis neuronal type 10 disease. Provide detailed clinical history of the patient. No fasting is required.

Method: Venipuncture / Finger-prick (FTA Card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm. Alternatively, a finger-prick blood sample can be collected on an FTA card. The collection procedure typically takes less than 10 minutes and is associated with minimal discomfort.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with cotton or a bandage for a few minutes to stop any minor bleeding. Results will be available within 3 to 4 weeks. A follow-up genetic counseling session is recommended upon receipt of results for proper interpretation and guidance.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session before the test to discuss the clinical indication, family history, and implications of possible results. A pedigree chart of affected family members with ceroid lipofuscinosis neuronal type 10 disease should be drawn. No fasting is required. Ensure clinical history documentation is complete.
2
During the Test:A blood sample (3-5 mL in EDTA tube) or a single drop of blood on an FTA card will be collected by a trained phlebotomist. The procedure takes approximately 5-10 minutes and involves a standard venipuncture or finger-prick. Minimal discomfort is expected.
3
After the Test:After sample collection, apply gentle pressure to the puncture site. Results will be available within 3 to 4 weeks through the online portal, email, or WhatsApp. A follow-up genetic counseling session is recommended upon receipt of results for interpretation, guidance on next steps, and discussion of family planning implications.

About This Test

Who Should Get This Test

The purpose of the CTSD Gene CLN10 NGS Genetic Test is to identify pathogenic mutations in the CTSD gene to confirm a diagnosis of ceroid lipofuscinosis neuronal type 10 (CLN10). This test aids clinicians in establishing a definitive molecular diagnosis, differentiating CLN10 from other neurological conditions with overlapping symptoms, guiding clinical management strategies, facilitating genetic counseling for affected families, and enabling carrier identification for reproductive planning.

How to Prepare

  • Ensure the patient is correctly identified with proper labeling of the sample tube or FTA card
  • Use sterile collection technique to prevent contamination
  • For blood collection: draw 3-5 mL into an EDTA (lavender-top) tube and mix gently
  • For FTA card: collect one drop of blood directly onto the designated area and allow to air dry completely
  • Transport the sample at ambient room temperature unless otherwise specified
  • Avoid hemolysis during blood draw by using appropriate needle gauge and gentle handling

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"CLN10 is an autosomal recessive disorder, meaning both parents must carry a pathogenic CTSD gene variant for a child to be affected. For couples with a family history of neuronal ceroid lipofuscinosis or consanguineous unions, carrier screening through NGS analysis of the CTSD gene is strongly recommended. Identifying carriers enables informed reproductive planning and allows for early neonatal intervention when necessary. Genetic counseling should accompany all testing to help families understand inheritance patterns, recurrence risks, and available reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL (Blood) / One drop (FTA Card)
ContainerEDTA Tube (Lavender Top) or FTA Card
Collection MethodVenipuncture / Finger-prick (FTA Card)

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume or quantity
  • Heavily hemolyzed, lipemic, or icteric samples
  • Unlabeled, mislabeled, or improperly identified samples
  • Samples collected in incorrect tube type (non-EDTA)
  • Contaminated FTA card or improperly dried blood spot
  • Samples exceeding the stated stability duration

Understanding Your Results

The CTSD Gene CLN10 NGS Genetic Test results indicate whether pathogenic or likely pathogenic mutations are present in the CTSD gene. A positive result confirms the molecular diagnosis of neuronal ceroid lipofuscinosis type 10 (CLN10). A negative result does not entirely exclude CLN10 if clinical suspicion remains high, as some mutations may not be detectable by this method. Results should be correlated with clinical presentation, family history, and other diagnostic findings. Genetic counseling is strongly recommended to interpret findings and discuss implications.
📊

Pathogenic Variant Detected

Diagnostic confirmation of CLN10

📊

Likely Pathogenic Variant Detected

Probable diagnosis; further evaluation recommended

📊

Variant of Uncertain Significance (VUS)

Inconclusive; monitoring and further investigation advised

📊

No Pathogenic Variant Detected

CLN10 unlikely but not fully excluded

📊

Carrier Identified (Heterozygous)

Carrier status; reproductive counseling recommended

⚠️ When to Consult a Doctor:

Consult a healthcare professional or geneticist if your child or a family member exhibits early-onset progressive vision loss, seizures, cognitive decline, muscle stiffness, or speech difficulties. Additionally, seek medical advice if there is a known family history of neuronal ceroid lipofuscinosis, Batten disease, or CTSD gene mutations. Early consultation is essential for timely diagnosis, appropriate management, and genetic counseling for family planning.

Limitations

  • ⚠This test is limited to the CTSD gene only and does not screen for mutations in other neuronal ceroid lipofuscinosis-associated genes
  • ⚠Deep intronic variants, large deletions, duplications, or structural rearrangements may not be reliably detected by standard NGS sequencing
  • ⚠Variants of uncertain significance (VUS) may be identified, and their clinical relevance may not be fully established
  • ⚠This test does not rule out other genetic or non-genetic causes of neurological symptoms
  • ⚠Test results should always be interpreted in the context of clinical findings and family history by a qualified geneticist

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Slight risk of infection at the venipuncture site (extremely rare)
  • ●Psychological distress or anxiety related to test results
  • ●Identification of variants of uncertain significance (VUS) may cause uncertainty

Interfering Factors

  • ●Contaminated or degraded DNA sample may affect sequencing quality
  • ●Insufficient DNA yield from the submitted sample
  • ●Hemolyzed blood samples may reduce DNA extraction efficiency
  • ●Recent blood transfusion within the past 4 weeks may affect results

Compare With Similar Tests

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Frequently Asked Questions

What is CLN10 disease?
CLN10 (Ceroid Lipofuscinosis Neuronal Type 10) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTSD gene. It is a form of neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, that primarily affects the nervous system. The condition leads to progressive neurological deterioration due to the accumulation of lipopigments in neurons.
What causes CLN10?
CLN10 is caused by mutations in the CTSD gene, which provides instructions for making cathepsin D, an enzyme essential for breaking down and recycling cellular waste in the brain and other tissues. When both copies of the CTSD gene carry pathogenic mutations, the cathepsin D enzyme is deficient or dysfunctional, leading to the accumulation of waste products (lipopigments) in cells and progressive neuronal damage.
What are the symptoms of CLN10?
Symptoms of CLN10 typically begin in early childhood and progressively worsen. Common symptoms include progressive vision loss, seizures, cognitive decline, muscle weakness and stiffness, and speech difficulties. As the disease advances, affected individuals may also experience problems with movement, feeding, and breathing. CLN10 is among the most severe forms of NCL and may present at birth or in the neonatal period.
How is CLN10 diagnosed?
CLN10 is diagnosed through a combination of clinical evaluation, neuroimaging, enzyme assays, and genetic testing. The most definitive diagnostic method is the CTSD Gene NGS Genetic Test, which uses next-generation sequencing to analyze the CTSD gene for pathogenic mutations. This test can confirm the diagnosis and identify the specific mutations responsible for the condition.
What does the NGS Genetic Test for CLN10 involve?
The NGS (Next-Generation Sequencing) Genetic Test for CLN10 involves extracting DNA from a blood sample or saliva sample and sequencing the entire coding region of the CTSD gene. The test identifies pathogenic or likely pathogenic mutations, classifies variants according to ACMG guidelines, and determines zygosity status. Results are typically available within 3 to 4 weeks.
What sample is required for this test?
The CTSD Gene CLN10 NGS Genetic Test requires either a blood sample (3-5 mL collected in an EDTA lavender-top tube), extracted DNA, or one drop of blood collected on an FTA card. All sample types are suitable for DNA extraction and subsequent next-generation sequencing analysis.
Is CLN10 an inherited condition?
Yes, CLN10 is an autosomal recessive inherited condition. This means that an affected child must inherit one mutated copy of the CTSD gene from each parent. Parents who each carry one mutated copy are typically unaffected carriers. When two carriers have a child, there is a 25% chance the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected and not a carrier.
Can this test detect carriers of CLN10?
Yes, the CTSD Gene NGS Genetic Test can identify carriers of CLN10 by detecting a single heterozygous pathogenic variant in the CTSD gene. Carrier testing is particularly important for family planning when there is a known family history of CLN10. Genetic counseling is recommended to discuss the implications of carrier status for reproductive decisions.
What is the cost of the CTSD Gene CLN10 NGS Genetic Test in India?
The cost of the CTSD Gene CLN10 NGS Genetic Test at DNA Labs India is Rs 20,000. This price includes the test fee, free home sample collection service (available across India), and online report delivery. Prices may vary at other laboratories. Contact DNA Labs India for current pricing and any available discounts.
How long does it take to get the test results?
The results for the CTSD Gene CLN10 NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered through the online portal, email, or WhatsApp for convenience. A follow-up genetic counseling session is recommended upon receipt of results.
Is there a cure for CLN10?
Currently, there is no cure for CLN10. Treatment focuses on managing symptoms and providing supportive care to improve quality of life. This may include anti-seizure medications, physical therapy, nutritional support, and respiratory care. Ongoing research into gene therapy and enzyme replacement therapy offers hope for future treatment options. Early diagnosis through genetic testing enables timely clinical management and access to emerging therapies.
Is genetic counseling required before taking this test?
While not mandatory, genetic counseling is strongly recommended before and after the CTSD Gene CLN10 NGS Genetic Test. A pre-test counseling session helps families understand the purpose of the test, possible outcomes, and implications of results. Post-test counseling assists with result interpretation, recurrence risk assessment, family planning guidance, and connecting families with appropriate support resources.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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