GPSM2 Gene Chudley-McCullough syndrome NGS Genetic Test
GPSM2 Gene Chudley-McCullough syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Chudley-McCullough Syndrome by identifying mutations in the GPSM2 gene using NGS technology.
- Test Code
- 5716
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
Provide clinical history and undergo genetic counseling session to draw a family pedigree chart.
Laboratory Analysis
Blood sample or DNA sample collection as per standard procedure.
Report Delivery
Sample sent to laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Chudley-McCullough Syndrome by identifying mutations in the GPSM2 gene using NGS technology.
How to Prepare
- Fast for not required
- Provide accurate clinical history
- Attend genetic counseling session
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect sample type
Understanding Your Results
Mutation detected
Diagnosis of Chudley-McCullough Syndrome likely. Genetic counseling recommended.
No mutation detected
Chudley-McCullough Syndrome unlikely based on this gene. Consider other genetic tests.
If symptoms of intellectual disability, seizures, or developmental delays are present, or if there is a family history of the syndrome.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require interpretation by genetic counselor
- ⚠Not a diagnostic tool for other conditions
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Technical errors in sequencing
Frequently Asked Questions
What is Chudley-McCullough Syndrome?
What causes Chudley-McCullough Syndrome?
What are the symptoms of Chudley-McCullough Syndrome?
How is Chudley-McCullough Syndrome diagnosed?
What is the GPSM2 Gene NGS Genetic Test?
How much does the test cost?
Is home sample collection available?
How long does it take to get results?
What does a positive test result mean?
What does a negative test result mean?
Is genetic counseling included?
Who should consider this test?
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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.
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