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TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test

Short Name: TRPS1 Gene NGS Test

Also known as: TRPS1 syndrome, Trichorhinophalangeal syndrome type 1

TRPS1 Gene Trichorhinophalangeal syndrome type 1 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the TRPS1 gene for the diagnosis of Trichorhinophalangeal syndrome type 1.

Test Code
5152
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)
Step 1

Sample Collection

Genetic counseling recommended

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection

Step 3

Report Delivery

Sample sent to lab for analysis

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide clinical history.
2
During the Test:Blood sample collection or DNA extraction.
3
After the Test:Wait for report generation and discuss results with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the TRPS1 gene for the diagnosis of Trichorhinophalangeal syndrome type 1.

How to Prepare

  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for TRPS1 can guide management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume

Understanding Your Results

Interpretation of TRPS1 gene test results involves identifying pathogenic variants associated with Trichorhinophalangeal syndrome type 1.
📊

Pathogenic variant detected

Confirms diagnosis of TRPS1 syndrome

📊

No pathogenic variant detected

TRPS1 syndrome unlikely, but clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms of TRPS1 are present or if there is a family history of the syndrome.

Limitations

  • May not detect all types of mutations
  • Results require clinical correlation

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of results

Interfering Factors

  • Poor sample quality
  • Contamination during collection

Compare With Similar Tests

TestTRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic TestWhole Exome Sequencing
ComparisonTRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is TRPS1 syndrome?
TRPS1 syndrome is a rare genetic disorder that affects bones, hair, and other tissues, caused by mutations in the TRPS1 gene.
What causes TRPS1 syndrome?
It is caused by mutations in the TRPS1 gene, which provides instructions for protein involved in development.
What are the symptoms of TRPS1?
Common symptoms include short stature, abnormalities of fingers and toes, distinctive facial features, slow growth, delayed speech, and mild intellectual disability.
How is TRPS1 diagnosed?
Diagnosis is through physical examination, medical history, and genetic testing like NGS to confirm mutations in the TRPS1 gene.
What is the cost of the TRPS1 gene test?
The cost in India is typically around INR 20,000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Reports are typically delivered in 3 to 4 weeks.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Can this test be done for children?
Yes, the test is suitable for all ages, including children.
What if the test result is positive?
A positive result confirms TRPS1 syndrome; consult with a healthcare provider for management options like therapy and interventions.
Does DNA Labs India provide raw data with the report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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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.

LIMS Integration

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.

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