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TBX5 Gene Holt-Oram syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TBX5 Gene Holt-Oram syndrome NGS Genetic Test

Short Name: TBX5 Gene Test

Also known as: HOS Genetic Test, TBX5 Mutation Analysis, Holt-Oram Syndrome DNA Test

TBX5 Gene Holt-Oram 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the TBX5 gene for accurate diagnosis of Holt-Oram syndrome, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
5779
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Holt-Oram syndrome.

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or using an FTA card for one drop of blood, following standard aseptic techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding; store samples as per guidelines for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Sample is processed in the lab using NGS technology for TBX5 gene analysis.
3
After the Test:Results are reviewed by geneticists and delivered with a clinical report; follow-up counseling is advised.

About This Test

Who Should Get This Test

To identify mutations in the TBX5 gene for accurate diagnosis of Holt-Oram syndrome, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • For blood sample: Collect 3-5 ml in an EDTA tube
  • For FTA card: Apply one drop of blood and air-dry
  • Ensure proper labeling with patient details and test information
  • Transport samples at ambient room temperature unless specified otherwise

Doctor's Notes

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

"Genetic testing for the TBX5 gene is crucial for confirming Holt-Oram syndrome, guiding management, and assessing recurrence risk in families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood in EDTA tube: Stable at 4°C for up to 72 hours
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TBX5 gene, which are associated with Holt-Oram syndrome.
Positive result: Pathogenic variant detected, consistent with diagnosis of Holt-Oram syndrome; genetic counseling recommended
Negative result: No pathogenic variants detected; clinical correlation is advised if symptoms persist
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as heart defects, upper limb abnormalities, or family history of Holt-Oram syndrome are present, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Requires genetic counseling for accurate interpretation of results
  • ⚠Not a substitute for comprehensive clinical evaluation and imaging studies
  • ⚠Results may have variants of uncertain significance requiring further investigation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Poor sample quality or insufficient DNA yield
  • ●Contamination during sample collection or processing
  • ●Technical errors in sequencing or analysis

Compare With Similar Tests

TestTBX5 Gene Holt-Oram syndrome NGS Genetic TestCardiac MRIEchocardiogramChromosomal MicroarrayWhole Exome Sequencing
ComparisonTBX5 Gene Holt-Oram syndrome NGS Genetic TestImaging test for heart defects; complementary to genetic testing for HOS diagnosisUltrasound of the heart; used to assess structural abnormalities but does not identify genetic causesDetects chromosomal abnormalities; may be used if NGS is inconclusiveBroader genetic test; considered if TBX5 test is negative but clinical suspicion remains

Frequently Asked Questions

What is Holt-Oram syndrome?
Holt-Oram syndrome is a rare genetic disorder that affects heart and upper limb development, caused by mutations in the TBX5 gene.
How is the TBX5 gene test performed?
The test uses next-generation sequencing (NGS) to analyze the TBX5 gene from a blood or DNA sample, identifying mutations associated with HOS.
What is the cost of the test?
The TBX5 Gene Holt-Oram Syndrome NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What samples are required for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
What do positive results mean?
A positive result indicates a pathogenic mutation in the TBX5 gene, confirming a diagnosis of Holt-Oram syndrome.
Can the test detect all mutations?
While NGS is comprehensive, it may not detect all types of variants, such as large deletions; limitations are discussed in the report.
Is the test suitable for prenatal diagnosis?
Yes, it can be used for prenatal testing if there is a family history of HOS, but consultation with a genetic specialist is advised.
What should I do after receiving results?
Consult a healthcare provider or genetic counselor to interpret results and discuss management options.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical 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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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

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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