UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test
Short Name: UPF3B Gene NGS Test for X-linked MR Type 14
Also known as: X-linked mental retardation type 14, UPF3B gene disorder, XLMR14
UPF3B Gene Mental retardation, X-linked type 14 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 UPF3B Gene NGS Genetic Test is to diagnose X-linked type 14 mental retardation by identifying mutations in the UPF3B gene. This helps in confirming the clinical diagnosis, guiding treatment and management strategies, providing genetic counseling for family planning, and enabling early intervention to improve quality of life.
- Test Code
- 1691
- 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 a genetic counseling session to draw a pedigree chart of family members affected with UPF3B gene-related disease. No fasting is required.
Method: Venipuncture or blood spot collection
Laboratory Analysis
A blood sample is collected via venipuncture or a blood spot on an FTA card by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
The sample is labeled and transported to the lab under ambient room temperature. Patients can resume normal activities immediately after collection.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the UPF3B Gene NGS Genetic Test is to diagnose X-linked type 14 mental retardation by identifying mutations in the UPF3B gene. This helps in confirming the clinical diagnosis, guiding treatment and management strategies, providing genetic counseling for family planning, and enabling early intervention to improve quality of life.
How to Prepare
- Ensure proper patient identification and labeling
- Use sterile collection equipment
- For blood spots, allow the drop to dry completely on the FTA card
- Store and transport samples at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for confirming diagnosis of X-linked type 14 mental retardation, enabling targeted management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient information or consent
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis; recommend genetic counseling and management planning.
Negative for pathogenic variants
Suggests no detected mutations in UPF3B; consider other genetic tests if symptoms persist.
Variant of uncertain significance (VUS)
Requires further investigation and family studies; genetic counseling advised.
Carrier status
For females; assess risk to offspring and provide counseling.
Consult a geneticist or neurologist if test results are positive, ambiguous, or if there are persistent symptoms suggestive of X-linked mental retardation. Genetic counseling is recommended for family planning.
Limitations
- ⚠May not detect all genetic variants due to technical limitations
- ⚠Does not rule out other genetic causes of mental retardation
- ⚠Requires correlation with clinical history and genetic counseling
- ⚠Results may be of uncertain significance in some cases
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection
- ●No significant risks from the genetic test itself
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during collection or processing
- ●Technical errors in sequencing
- ●Use of inappropriate sample type
Compare With Similar Tests
| Test | UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test | ||||
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| Comparison | UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test |
Frequently Asked Questions
What is the UPF3B Gene NGS Genetic Test?
Who should consider this test?
How is the test performed?
What is the cost of the test in India?
Is home collection available?
How long does it take to get results?
What do the results indicate?
Is genetic counseling provided?
What are the symptoms of X-linked type 14 mental retardation?
Can females be affected?
Are raw data files available with the report?
What should I do after receiving a positive result?
What is the accuracy of the UPF3B Gene NGS Test?
Can this test be performed during pregnancy for prenatal diagnosis?
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