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DNA Labs India

TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome) Test

DNA Labs India | ISO 9001:2015 Certified

TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome) Test

Also known as: TBX5 Gene Sequencing, Holt-Oram Syndrome Genetic Analysis

TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome) Test test available at DNA Labs India for ₹37,500. Uses Sanger Sequencing on Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of TBX5 Full Length Gene Sequence Analysis is to confirm the diagnosis of Holt-Oram Syndrome by detecting mutations in the TBX5 gene. It helps in determining the genetic cause of the disorder, assessing disease severity, guiding treatment decisions, and providing information for genetic counseling and family planning.

Test Code
3222
Price
₹37,500
Sample Type
Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood
Result Time
4-6 weeks
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

No specific preparation required. Ensure proper identification and consent.

Step 2

Laboratory Analysis

Sample collection by trained phlebotomist. For amniotic fluid or chorionic villi, procedure by specialist.

Step 3

Report Delivery

Apply pressure to puncture site. Store samples as instructed.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:No fasting required. Doctor's prescription may be needed.
2
During the Test:Blood draw or other sample collection procedure.
3
After the Test:Resume normal activities. Results in 4-6 weeks.

About This Test

Who Should Get This Test

The purpose of TBX5 Full Length Gene Sequence Analysis is to confirm the diagnosis of Holt-Oram Syndrome by detecting mutations in the TBX5 gene. It helps in determining the genetic cause of the disorder, assessing disease severity, guiding treatment decisions, and providing information for genetic counseling and family planning.

How to Prepare

  • Use sterile containers
  • Label samples correctly
  • Transport at recommended temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of Holt-Oram Syndrome allows for timely cardiac monitoring and management of upper limb defects, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood/Amniotic Fluid/Chorionic villi/Cord blood
ContainerSterile container/Sterile Normal Saline Container/EDTA Vacutainer (2ml)

Sample Stability

Blood: stable for 48 hours at room temperature
Amniotic fluid: refrigerate immediately
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results of TBX5 gene sequencing are interpreted by geneticists to identify mutations associated with Holt-Oram Syndrome.
Positive result: Pathogenic mutation detected, confirming HOS diagnosis
Negative result: No pathogenic mutations found, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as congenital heart defects, upper limb abnormalities, or have a family history of Holt-Oram Syndrome.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires interpretation by a geneticist
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risks: bruising, infection at puncture site
  • ●For invasive samples like amniocentesis, risk of miscarriage

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Technical errors in sequencing

Frequently Asked Questions

What is TBX5 Full Length Gene Sequence Analysis?
It is a genetic test that sequences the TBX5 gene to diagnose Holt-Oram Syndrome by identifying mutations.
Why is this test recommended?
It is recommended for individuals with symptoms of Holt-Oram Syndrome, such as congenital heart defects and upper limb abnormalities, or for those with a family history.
How is the test performed?
The test involves analyzing a blood or other sample using Sanger Sequencing to detect mutations in the TBX5 gene.
What samples are required for the test?
Peripheral blood, amniotic fluid, chorionic villi, or cord blood can be used.
How long does it take to get results?
Results are typically available within 4-6 weeks after sample collection.
What is the cost of the test?
The test costs INR 37500 at DNA Labs India, which includes analysis and a detailed report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What are the symptoms of Holt-Oram Syndrome?
Symptoms include abnormal upper limb development, heart defects, shortness of breath, fatigue, irregular heartbeat, clubbed fingers, and chest pain.
How accurate is the test?
The test uses Sanger Sequencing, which is highly accurate for detecting mutations in the TBX5 gene.
What if the test result is positive?
A positive result confirms Holt-Oram Syndrome, and further medical management, including cardiac monitoring and genetic counseling, is recommended.
Can this test be done during pregnancy?
Yes, it can be performed on amniotic fluid or chorionic villi for prenatal diagnosis in high-risk families.
Is genetic counseling recommended after the test?
Yes, genetic counseling is advised to understand the implications, recurrence risks, and management options.
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.

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✓ 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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