RBM10 Gene Tarp syndrome NGS Genetic Test
Short Name: RBM10 NGS Test
Also known as: RBM10 gene mutation test, TARP syndrome genetic test, RBM10 sequencing
RBM10 Gene Tarp syndrome 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 typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the RBM10 gene that cause TARP syndrome. Early diagnosis enables timely medical intervention, appropriate surveillance, and genetic counseling for affected families.
- Test Code
- 5950
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counseling session is recommended to draw a pedigree chart and discuss the test implications.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample is collected by venipuncture or FTA card blood spot. Ensure proper labeling.
Report Delivery
No special precautions. The sample is transported to the lab at ambient temperature.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the RBM10 gene that cause TARP syndrome. Early diagnosis enables timely medical intervention, appropriate surveillance, and genetic counseling for affected families.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto each circle, air dry for 1 hour.
- Label the sample with patient name, date, and unique ID.
- Ship at ambient temperature; avoid extreme heat or freezing.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"TARP syndrome is a rare X-linked disorder; early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit (>7 days) without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of TARP syndrome. Genetic counseling recommended for family members.
Action: Initiate multidisciplinary management and surveillance.
Negative (No pathogenic variant)
No mutation in RBM10 gene; TARP syndrome unlikely but not excluded if clinical suspicion is high.
Action: Consider other genetic tests or clinical evaluation.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown.
Action: Further family segregation studies may be needed.
Consult a clinical geneticist or pediatrician if your child shows features suggestive of TARP syndrome, or if you have a family history of the condition. Early diagnosis can significantly improve management.
Limitations
- ⚠This test detects mutations in the RBM10 gene only; other genetic causes of similar phenotypes are not evaluated.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess non-genetic causes of symptoms.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality from improper sample handling
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute patient DNA)
- ●Bone marrow transplant (chimerism)
Compare With Similar Tests
| Test | RBM10 Gene Tarp syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted RBM10 Sanger Sequencing |
|---|---|---|---|
| Comparison | RBM10 Gene Tarp syndrome NGS Genetic Test |
Frequently Asked Questions
What is TARP syndrome?
How is TARP syndrome diagnosed?
What is the cost of the RBM10 gene NGS test in India?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get results?
Will I receive raw data files?
Is home sample collection available?
What does a positive result mean?
Can this test be done for prenatal diagnosis?
Are there any risks associated with the test?
Is the test covered by insurance?
Related Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
₹20,000EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
₹20,000FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
₹20,000TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
₹20,000ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
₹20,000PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
₹20,000Reference 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.