CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic Test
Short Name: CLP1 NGS Genetic Test
Also known as: Pontocerebellar hypoplasia type 10, PCH10, CLP1-related pontocerebellar hypoplasia
CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be prepared and delivered within 3 to 4 weeks from the date of sample receipt at the laboratory. In rare cases, additional time may be required for confirmatory Sanger sequencing or family studies.. 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 purpose of this NGS genetic test is to detect mutations in the CLP1 gene that cause pontocerebellar hypoplasia type 10. This test is intended to confirm a clinical diagnosis, differentiate from other similar neurological disorders, identify carrier status in at-risk individuals, and provide information for genetic counseling and recurrence risk assessment.
- Test Code
- 4479
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports will be prepared and delivered within 3 to 4 weeks from the date of sample receipt at the laboratory. In rare cases, additional time may be required for confirmatory Sanger sequencing or family studies.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counseling session is recommended to draw a pedigree chart and confirm clinical history of the patient. If you are taking anticoagulant medications, inform your healthcare provider before blood collection.
Method: Peripheral blood draw / FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample from your arm using a sterile needle. For FTA card collection, a drop of blood will be spotted onto a special filter paper card and allowed to air dry. The process is simple and typically takes less than five minutes.
Report Delivery
You may resume normal activities immediately after sample collection. Keep the sample as instructed. Reports will be delivered within 3 to 4 weeks. If genetic counseling is needed post-test, our genetic counselor will contact you to explain the results and implications.
Timeline: Reports will be prepared and delivered within 3 to 4 weeks from the date of sample receipt at the laboratory. In rare cases, additional time may be required for confirmatory Sanger sequencing or family studies.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the CLP1 gene that cause pontocerebellar hypoplasia type 10. This test is intended to confirm a clinical diagnosis, differentiate from other similar neurological disorders, identify carrier status in at-risk individuals, and provide information for genetic counseling and recurrence risk assessment.
How to Prepare
- No fasting required.
- Use an EDTA tube for liquid blood collection.
- Alternatively, provide 1-2 drops of blood on a sterile FTA card.
- Ensure the sample is labeled correctly with your name, date of birth, and collection date.
- Transport the sample to the laboratory at room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CLP1 gene pontocerebellar hypoplasia type 10 is a rare autosomal recessive disorder. Genetic counseling and accurate molecular confirmation are essential for families with affected individuals to understand recurrence risks and make informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- FTA card not dried properly before packaging
- Incorrectly labeled sample
- Sample leaking in transit
- Sample collected in a different anticoagulant (e.g., heparin) without adequate DNA extraction validation
Understanding Your Results
No pathogenic variant detected
No mutation was found in the CLP1 gene. This does not completely exclude the diagnosis of PCH10, particularly in atypical cases, and other genetic causes may be considered.
Homozygous pathogenic variant
Both copies of the CLP1 gene have the disease-causing variant. This is consistent with a molecular diagnosis of pontocerebellar hypoplasia type 10.
Compound heterozygous pathogenic variants
Two different pathogenic variants, one on each allele, were detected. This confirms the diagnosis and indicates autosomal recessive inheritance.
Variant of uncertain significance (VUS)
One or more variants were identified that have not yet been classified as pathogenic or benign. Additional family studies and functional analysis may be required.
Carrier status
A single heterozygous pathogenic variant was detected. This individual is a carrier and is not affected by PCH10, but has a 50% chance to pass the variant to offspring.
Consult a neurologist or clinical geneticist if you observe developmental delays, hypotonia, seizures, abnormal movements, or if there is a family history of pontocerebellar hypoplasia. Genetic counseling is strongly recommended before and after testing to understand implications for family members and reproductive risks.
Limitations
- ⚠NGS may not detect large deletions/duplications, repeat expansions, or deep intronic variants in all genes analyzed.
- ⚠No test can guarantee detection of all possible mutations in the CLP1 gene.
- ⚠Results should be interpreted by a qualified geneticist and in the context of the individual's clinical symptoms and family history.
- ⚠Carrier status cannot be fully ruled out when only one mutation is detected in an affected individual with atypical presentation.
Risks & Considerations
- ●A blood draw may cause minor bruising, pain, or light-headedness at the needle site.
- ●Possible anxiety or psychological impact from receiving genetic test results.
- ●No direct medical risks are associated with the genetic test itself.
Interfering Factors
- ●Recent blood transfusion from a donor with a different genotype
- ●Bone marrow transplantation or stem cell therapy
- ●Contamination of the sample during collection or transport
- ●Insufficient DNA quantity or degraded DNA
Frequently Asked Questions
What is the cost of the CLP1 gene NGS genetic test?
What does the CLP1 gene NGS genetic test detect?
Who should consider this genetic test?
What sample type is required?
Is fasting required before the test?
How long does it take to get the report?
What is Next Generation Sequencing (NGS)?
How is CLP1 gene pontocerebellar hypoplasia inherited?
Can this genetic test be performed before birth?
Does DNA Labs India provide home sample collection?
How will I receive my test report?
What does a positive result mean?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.