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TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test

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TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test

Short Name: GHDS NGS Genetic Test

Also known as: Ghosal Syndrome, GHDS

TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Ghosal Hematodiaphyseal Syndrome by detecting mutations in the TBXAS1 gene using NGS technology.

Test Code
4944
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
NGS Technology
Step 1

Sample Collection

Clinical history and genetic counseling recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and consultation.

About This Test

Who Should Get This Test

To diagnose Ghosal Hematodiaphyseal Syndrome by detecting mutations in the TBXAS1 gene using NGS technology.

How to Prepare

  • Provide clinical history of patient
  • Genetic counseling session to draw pedigree chart
  • Use appropriate sample type

Doctor's Notes

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

"Genetic testing for Ghosal Hematodiaphyseal Syndrome is essential for accurate diagnosis and management. Early detection can help in planning appropriate treatments and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Stable for 24 hours at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the TBXAS1 gene associated with GHDS.
Positive for pathogenic variant: Confirms diagnosis of GHDS
Negative for pathogenic variant: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of GHDS are present or family history suggests risk, consult a genetic counselor or healthcare provider.

Limitations

  • ⚠Test may not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors

Frequently Asked Questions

What is Ghosal Hematodiaphyseal Syndrome?
Ghosal Hematodiaphyseal Syndrome (GHDS) is a rare genetic disorder affecting bones and blood cells, caused by mutations in the TBXAS1 gene.
What causes GHDS?
GHDS is caused by mutations in the TBXAS1 gene, which leads to deficiency in thromboxane synthase enzyme.
What are the symptoms of GHDS?
Symptoms include abnormal bone growth, increased bone density, bone pain, fractures, anemia, and delayed growth.
How is GHDS diagnosed?
Diagnosis involves clinical symptoms, family history, imaging tests like X-rays, and genetic testing to confirm TBXAS1 mutations.
What is the TBXAS1 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the TBXAS1 gene for mutations associated with GHDS.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do before getting tested?
Undergo genetic counseling and provide clinical history. Ask for raw data, FASTQ, and VCF files along with the report.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting genetic mutations, but interpretation requires expert genetic counseling.
What are the implications of a positive result?
A positive result confirms GHDS diagnosis, guiding treatment and family planning. Genetic counseling is recommended.
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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For Hospitals & Clinics

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

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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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