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TBX3 Gene Ulnar-Mammary syndrome NGS Genetic Test

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TBX3 Gene Ulnar-Mammary syndrome NGS Genetic Test

Short Name: TBX3 UMS NGS Test

Also known as: Ulnar-Mammary Syndrome Genetic Test, TBX3 Gene Mutation Analysis, UMS NGS Panel

TBX3 Gene Ulnar-Mammary 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 Reports are delivered within 3 to 4 weeks after sample receipt.. 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 confirm a clinical diagnosis of Ulnar-Mammary Syndrome by identifying disease-causing mutations in the TBX3 gene. It also helps in carrier detection, presymptomatic testing for at-risk family members, and providing information for genetic counseling and family planning.

Test Code
5970
CPT Code
81407
ICD Code
Q87.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session are recommended before testing.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.

Step 3

Report Delivery

No specific precautions. Patients can resume normal activities immediately.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation needed. However, a genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:A blood sample is drawn or a finger-prick is performed. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities. Results are typically available in 3-4 weeks. A genetic counselor will discuss the results with you.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Ulnar-Mammary Syndrome by identifying disease-causing mutations in the TBX3 gene. It also helps in carrier detection, presymptomatic testing for at-risk family members, and providing information for genetic counseling and family planning.

How to Prepare

  • For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
  • For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
  • Label the sample with patient name, date of birth, and collection date.
  • Transport sample to the laboratory at ambient temperature (15-30°C).

Doctor's Notes

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

"Genetic testing for UMS is crucial for accurate diagnosis and family planning. NGS provides comprehensive analysis of the TBX3 gene, enabling precise identification of pathogenic variants."

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 tube or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood in EDTA tube48 hours
Extracted DNA1 week
FTA card6 months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time (>72 hours) without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic or likely pathogenic variant was identified in the TBX3 gene. Results are interpreted in the context of clinical findings and family history.
📊

Positive (Pathogenic variant detected)

Confirms diagnosis of Ulnar-Mammary Syndrome. Genetic counseling recommended for family planning and management.

📊

Negative (No pathogenic variant detected)

Does not rule out UMS if clinical suspicion is high; other genetic causes may be considered.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

Consult a geneticist or genetic counselor if you or your child have symptoms suggestive of UMS, a family history of the condition, or if you are planning a pregnancy and are concerned about inherited disorders.

Limitations

  • ⚠This test detects mutations in the TBX3 gene only; other genes or non-coding regions are not analyzed.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant interpretation may be inconclusive in some cases, requiring further family studies.
  • ⚠This test does not assess the functional impact of variants.

Risks & Considerations

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

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Insufficient sample quantity
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Rare genetic variants of uncertain significance that may require further analysis

Compare With Similar Tests

TestTBX3 Gene Ulnar-Mammary syndrome NGS Genetic TestWhole Exome Sequencing (WES)Sanger SequencingChromosomal Microarray (CMA)
ComparisonTBX3 Gene Ulnar-Mammary syndrome NGS Genetic TestWES analyzes all coding regions of genes, while this test focuses specifically on TBX3. WES is more comprehensive but costlier and may yield incidental findings.Sanger sequencing is used for targeted single-variant testing, but NGS is more efficient for full gene analysis and can detect novel variants.CMA detects copy number variations but does not detect single nucleotide variants in TBX3. This NGS test is specific for point mutations.

Frequently Asked Questions

What is Ulnar-Mammary Syndrome?
Ulnar-Mammary Syndrome is a rare genetic disorder caused by mutations in the TBX3 gene, affecting limb, breast, and tooth development.
How is Ulnar-Mammary Syndrome inherited?
It is inherited in an autosomal dominant pattern, meaning a 50% chance of passing the mutation to each child.
What are the common symptoms of UMS?
Common symptoms include missing or underdeveloped fingers/toes, breast hypoplasia, dental anomalies, short stature, and scoliosis.
Why is NGS used for TBX3 gene testing?
NGS allows comprehensive sequencing of the TBX3 gene, detecting point mutations, small insertions/deletions, and splice-site variants with high accuracy.
What is the cost of the TBX3 NGS test at DNA Labs India?
The test costs INR 20,000, which includes genetic counseling, NGS analysis, and a detailed clinical report.
What sample is required for this test?
A blood sample (2-3 ml in EDTA tube) or one drop of blood on an FTA card is required.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Reports are typically available within 3 to 4 weeks after sample receipt.
Will I receive raw data files?
Yes, DNA Labs India provides raw data (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection across major cities in India for online bookings.
Can this test be used for prenatal diagnosis?
Yes, but it requires prior confirmation of the familial mutation and should be done under the guidance of a geneticist.
What does a negative result mean?
A negative result means no pathogenic variant was found in the TBX3 gene, but it does not completely rule out UMS if clinical suspicion is high.
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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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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