TSPAN7 Gene Mental retardation, X-linked type 58 NGS Genetic Test
Short Name: TSPAN7 NGS Test
Also known as: TSPAN7 Gene Sequencing, X-linked Intellectual Disability Type 58 Genetic Test, TSPAN7 Mutation Analysis
TSPAN7 Gene Mental retardation, X-linked type 58 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 from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TSPAN7 gene that are associated with X-linked intellectual disability type 58. Establishing the molecular cause helps in accurate diagnosis, carrier detection, genetic counseling, and risk assessment for at-risk family members.
- Test Code
- 4281
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A genetic counseling session is recommended before testing to draw a pedigree chart and collect family history.
Method: Blood draw / FTA card spot / DNA extraction kit
Laboratory Analysis
A blood sample is taken by trained phlebotomist. For FTA card, a drop of blood from a finger prick is applied to the card and allowed to dry.
Report Delivery
No specific precautions are needed after sample collection. The sample should be transported to the lab as per instructions.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TSPAN7 gene that are associated with X-linked intellectual disability type 58. Establishing the molecular cause helps in accurate diagnosis, carrier detection, genetic counseling, and risk assessment for at-risk family members.
How to Prepare
- Ensure the sample collection container is labeled with patient details and the test name.
- If using FTA card, apply only one drop of blood per circle and allow to dry for 30 minutes.
- Do not freeze blood samples; keep at room temperature if delivery is within 24 hours.
- Complete the clinical history form and include the genetic counseling summary.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early molecular diagnosis of TSPAN7-associated intellectual disability helps guide management and family counselling. This NGS test provides the accuracy needed to support clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample received unlabeled
- Sample with insufficient quantity for DNA extraction
- Sample showing microbial contamination
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
The molecular diagnosis of TSPAN7-related X-linked intellectual disability type 58 is confirmed. Family members are eligible for targeted variant testing and genetic counseling.
No pathogenic variant detected
A TSPAN7 gene mutation is not identified. This does not rule out a genetic cause for the patient's symptoms. Other genes or tests may be considered.
Variant of Uncertain Significance (VUS)
A DNA sequence change was found, but its clinical relevance is unknown. Additional family studies and functional evidence may help determine its role.
Consult a neurologist or clinical geneticist if the patient has unexplained intellectual disability, developmental regression, seizures, or if there is a family history of X-linked intellectual disability. Genetic counseling is recommended for families planning a child.
Limitations
- ⚠This test only detects variants in TSPAN7 gene regions; other genetic causes of intellectual disability are not analyzed.
- ⚠Large structural rearrangements may not be reliably detected by NGS.
- ⚠Variants in non-coding/intronic regions outside splice sites are usually not covered.
- ⚠Variant reclassification may occur over time as new research becomes available.
Risks & Considerations
- ●Mild pain, bruising, or bleeding at the blood collection site
- ●Dizziness during or immediately after blood collection
- ●Psychological distress from test results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Incomplete clinical information
- ●Sample contamination
- ●Non-standard variant nomenclature
Compare With Similar Tests
| Test | TSPAN7 Gene Mental retardation, X-linked type 58 NGS Genetic Test | TSPAN7 NGS Test | Intellectual Disability NGS Panel | Chromosomal Microarray Analysis |
|---|---|---|---|---|
| Comparison | TSPAN7 Gene Mental retardation, X-linked type 58 NGS Genetic Test |
Frequently Asked Questions
What is the TSPAN7 gene?
What is X-linked intellectual disability type 58?
Who should undergo this TSPAN7 NGS test?
What is the cost of TSPAN7 gene mutation testing at DNA Labs India?
What sample is required for this test?
Is fasting required for this NGS genetic test?
What is the turnaround time for the TSPAN7 NGS test?
Will I receive raw data files with my report?
How does genetic counseling help before the test?
What are the limitations of this NGS test?
Can this test be done during pregnancy?
Does DNA Labs India offer free home sample collection?
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