VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic Test
Short Name: VRK1 PCH1A NGS
Also known as: VRK1 Gene Next-Generation Sequencing Test, PCH1A Genetic Test, VRK1 Mutation Analysis Test
VRK1 Gene Pontocerebellar hypoplasia type 1A 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 Reports are generated within 3 to 4 weeks after the sample is received at the laboratory.. 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 single-gene NGS test is to detect mutations in the VRK1 gene that are known to cause pontocerebellar hypoplasia type 1A. It may be used to confirm a clinical diagnosis, offer recurrence-risk information for parents, identify at-risk family members, and support future family planning decisions. Clinical correlation and genetic counselling are essential.
- Test Code
- 4474
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generated within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session to draw a pedigree chart of family members affected with VRK1-related PCH1A disease is recommended. Please bring any relevant clinical records, imaging reports, or family history documents.
Method: Peripheral venipuncture / Dried blood spot on FTA card
Laboratory Analysis
Depending on the sample type chosen, a trained phlebotomist will collect venous blood in an EDTA tube or prepare a dried blood spot on an FTA card. The procedure takes only a few minutes and is minimally invasive.
Report Delivery
For blood samples, the tube should be gently inverted and transported at room temperature or refrigerated. For FTA cards, the card must be air-dried before placing it in the provided pouch. The sample will be transported to the laboratory under temperature-controlled conditions.
Timeline: Reports are generated within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this single-gene NGS test is to detect mutations in the VRK1 gene that are known to cause pontocerebellar hypoplasia type 1A. It may be used to confirm a clinical diagnosis, offer recurrence-risk information for parents, identify at-risk family members, and support future family planning decisions. Clinical correlation and genetic counselling are essential.
How to Prepare
- No fasting is required before sample collection
- Use an EDTA vacutainer for whole blood collection
- For FTA card collection, apply one drop of blood directly onto the marked circle
- The FTA card should not be refrigerated or frozen
- Label the sample tube or card clearly with the patient's full name and date of birth
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed genetic diagnosis can guide recurrence risk counselling and family planning options for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Frozen whole blood sample
- FTA card that is wet, damaged, or contaminated
- Unlabelled or mislabelled sample
Understanding Your Results
Suggests the variant is disease-causing and is consistent with PCH1A if clinical features are present.
The variant cannot be clearly classified at this time; additional family testing may help clarify its significance.
The variant is not considered to be disease-causing.
No clinically significant VRK1 mutation was identified; other genetic causes should be considered.
Consult a neurologist or clinical geneticist if your child presents with hypotonia, poor feeding, seizures, developmental delay, or MRI findings of pontocerebellar hypoplasia. If a positive or uncertain result is reported, genetic counselling is strongly recommended to understand recurrence risks, carrier status, and next steps.
Limitations
- ⚠NGS may not detect large structural rearrangements, deep intronic variants, or trinucleotide repeat expansions
- ⚠This single-gene test does not analyse other genes that can cause pontocerebellar hypoplasia or similar phenotypes
- ⚠Variants of uncertain significance may be detected and may require additional family studies
- ⚠The result should always be interpreted by a clinical geneticist with the patient's full medical history
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the venipuncture site
- ●Rare possibility of infection at the needle site
- ●Mild discomfort during sample collection
- ●No significant physical risk for FTA card sampling
Interfering Factors
- ●Poor or degraded DNA quality
- ●Maternal cell contamination in blood samples from infants
- ●Sample mix-up or mislabelling
- ●Excessively haemolysed blood may affect DNA extraction
Compare With Similar Tests
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