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TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test

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TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test

Short Name: TBX6 NGS Test

Also known as: TBX6 Gene Mutation Test, Spondylocostal Dysostosis Type 5 Genetic Test, TBX6 Sequencing

TBX6 Gene Spondylocostal dysostosis type 5 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

The purpose of this test is to identify mutations in the TBX6 gene that cause Spondylocostal Dysostosis Type 5. It is used to confirm a clinical diagnosis, assess the risk of recurrence in families, and guide management strategies. Genetic testing can also help differentiate between types of spondylocostal dysostosis and provide information for prenatal testing if desired.

Test Code
5943
CPT Code
81407
ICD Code
Q76.6
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please inform your healthcare provider about any medications or supplements you are taking.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. If using FTA card, a drop of blood will be collected via a fingerstick. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. There are no restrictions after sample collection. Results will be available in 3-4 weeks.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Before the test, you will have a genetic counseling session to discuss the purpose, benefits, and limitations of the test. A pedigree chart will be drawn to understand the family history.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No anesthesia is required.
3
After the Test:After the test, you can return to normal activities. Results will be shared with you and your healthcare provider. Genetic counseling will be provided to explain the results and implications.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TBX6 gene that cause Spondylocostal Dysostosis Type 5. It is used to confirm a clinical diagnosis, assess the risk of recurrence in families, and guide management strategies. Genetic testing can also help differentiate between types of spondylocostal dysostosis and provide information for prenatal testing if desired.

How to Prepare

  • Ensure the sample is collected in the provided EDTA tube or FTA card
  • Label the sample with patient's name and date of birth
  • Transport the sample to the lab at ambient temperature
  • Avoid hemolysis of blood sample

Doctor's Notes

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

"Genetic testing for TBX6 is crucial for accurate diagnosis and management of spondylocostal dysostosis type 5. Early detection can guide treatment 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 Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood: 7 days at room temperature
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The interpretation of the TBX6 gene NGS test is based on the presence or absence of pathogenic mutations. A positive result confirms the diagnosis of Spondylocostal Dysostosis Type 5, while a negative result reduces the likelihood but does not completely rule out the condition.
📊

Positive (Pathogenic mutation detected)

Confirms the diagnosis of Spondylocostal Dysostosis Type 5. Genetic counseling is recommended for family members.

Action: Discuss management options with a specialist.

📊

Negative (No pathogenic mutation detected)

No disease-causing mutation found in TBX6. Other genetic causes may be considered.

Action: Consider broader genetic testing if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown.

Action: Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you or your child have symptoms suggestive of spondylocostal dysostosis, such as abnormal spine curvature, fused ribs, or short stature, consult a geneticist or pediatrician. Also, if you have a family history of this condition, genetic counseling is advised.

Limitations

  • ⚠This test only analyzes the TBX6 gene and may not detect mutations in other genes associated with spondylocostal dysostosis
  • ⚠Large deletions/duplications may not be detected by standard NGS
  • ⚠Variants of uncertain significance may require further testing
  • ⚠Genetic testing cannot predict the severity of symptoms

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results (VUS)

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Insufficient sample quantity
  • ●Recent blood transfusion (may affect DNA extraction)
  • ●Maternal cell contamination in prenatal samples

Compare With Similar Tests

TestTBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic TestSpondylocostal Dysostosis PanelWhole Exome SequencingChromosomal Microarray
ComparisonTBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test

Frequently Asked Questions

What is Spondylocostal Dysostosis Type 5?
Spondylocostal Dysostosis Type 5 is a rare genetic disorder caused by mutations in the TBX6 gene, leading to abnormal development of the spine and ribs.
What are the symptoms of Spondylocostal Dysostosis Type 5?
Common symptoms include scoliosis, fused ribs, short stature, and breathing difficulties in severe cases.
How is Spondylocostal Dysostosis Type 5 diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS analysis of the TBX6 gene.
What is the cost of the TBX6 NGS Genetic Test?
The test costs Rs 20000.0 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done on children?
Yes, the test is suitable for all age groups, including children.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the TBX6 gene, confirming the diagnosis.
What if the result is negative?
A negative result means no mutation was found in TBX6, but other genetic causes may still be possible.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss the implications of the test.
Is home sample collection available?
Yes, we offer free home sample collection across major cities in India.
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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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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