OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test
Short Name: OPHN1 Gene NGS Test
Also known as: X-linked Mental Retardation with Cerebellar Hypoplasia, OPHN1-Related Intellectual Disability, Oligophrenin-1 Gene Test
OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 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 3 to 4 Weeks. 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 the OPHN1 Gene NGS Genetic Test is to diagnose X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance by detecting mutations in the OPHN1 gene. This aids in confirming clinical suspicion, differentiating from other neurodevelopmental disorders, informing prognosis, and facilitating genetic counseling and family planning.
- Test Code
- 1715
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of family members affected with the condition.
Method: Venipuncture for blood
Laboratory Analysis
Blood sample collection by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Sample is labeled, stored appropriately, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the OPHN1 Gene NGS Genetic Test is to diagnose X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance by detecting mutations in the OPHN1 gene. This aids in confirming clinical suspicion, differentiating from other neurodevelopmental disorders, informing prognosis, and facilitating genetic counseling and family planning.
How to Prepare
- Ensure informed consent is obtained
- Collect blood in an EDTA tube or use FTA card for one drop of blood
- Label sample with patient details and test request
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for OPHN1 gene mutations is crucial for early diagnosis and management of X-linked mental retardation with cerebellar hypoplasia, especially in males with neurodevelopmental delays and distinctive facial features."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Consult a doctor if symptoms such as intellectual disability, delayed speech, poor coordination, or distinctive facial features are present, or if there is a family history of X-linked mental retardation.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions/duplications)
- ⚠Variants of unknown significance (VUS) may be identified
- ⚠Does not assess other genetic or non-genetic causes of mental retardation
Risks & Considerations
- ●Psychological impact of genetic diagnosis
- ●Risk of incidental findings
- ●Emotional stress for families
Interfering Factors
- ●Poor sample quality or DNA degradation
- ●Contamination during collection or processing
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test | Fragile X Syndrome Genetic Test | Rett Syndrome Genetic Test | X-linked Intellectual Disability Panel |
|---|---|---|---|---|
| Comparison | OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test |
Frequently Asked Questions
What is the OPHN1 Gene NGS Genetic Test?
Who should consider getting this test?
What are the common symptoms of OPHN1-related disorder?
How is the test performed?
What is the cost of the OPHN1 Gene NGS Test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results mean?
Are there any risks associated with this genetic test?
Is the test covered by insurance or government schemes?
Can females be affected by OPHN1-related disorder?
What should I do after receiving the test results?
Related Tests
Reference 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.