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TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic Test

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TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic Test

Short Name: TBX19 Gene ACTH Deficiency Test

Also known as: ACTH Deficiency Genetic Test, TBX19 Mutation Analysis, TBX19 Gene Sequencing

TBX19 Gene Adrenocorticotropic hormone deficiency 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.

NGS Genetic TestAll Ages🏠 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 pathogenic mutations in the TBX19 gene that cause adrenocorticotropic hormone (ACTH) deficiency, enabling accurate diagnosis, personalized treatment, and genetic counseling.

Test Code
5360
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 TBX19 gene-related disorders.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw from a vein or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before testing.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for 3-4 weeks for report delivery. Follow up with a healthcare provider for result interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the TBX19 gene that cause adrenocorticotropic hormone (ACTH) deficiency, enabling accurate diagnosis, personalized treatment, and genetic counseling.

How to Prepare

  • Ensure genetic counseling is completed before sample collection.
  • Use sterile equipment for blood collection.
  • Label samples correctly with patient details.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TBX19 gene. A positive result confirms a genetic basis for ACTH deficiency, while a negative result suggests other etiologies.
📊

Positive for pathogenic variant

Confirms TBX19 gene mutation causing ACTH deficiency. Recommend clinical correlation and genetic counseling.

📊

Negative for pathogenic variant

No mutations detected in TBX19 gene. Consider other diagnostic tests for ACTH deficiency.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms such as chronic fatigue, weight loss, low blood pressure, or have a family history of ACTH deficiency, consult an endocrinologist or genetic specialist for evaluation and possible testing.

Limitations

  • ⚠Test may not detect all genetic variants due to technical limitations.
  • ⚠Results should be correlated with clinical findings and family history.
  • ⚠Does not assess other causes of ACTH deficiency.

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection.
  • ●Psychological impact of genetic results may require counseling.

Frequently Asked Questions

What is the TBX19 Gene ACTH Deficiency NGS Genetic Test?
It is a next-generation sequencing test that analyzes the TBX19 gene to identify mutations causing adrenocorticotropic hormone (ACTH) deficiency.
Why is this test recommended?
It is recommended for individuals with symptoms of ACTH deficiency, such as fatigue, weight loss, and low blood pressure, or a family history of the condition.
What does the test involve?
The test involves collecting a blood sample or DNA, which is then analyzed using NGS technology to detect TBX19 gene mutations.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted alongside clinical findings.
What is the cost of the test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available.
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.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What if the test result is positive?
A positive result confirms a TBX19 gene mutation. Consult a healthcare provider for treatment options and genetic counseling.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to understand the test implications and draw a family pedigree chart.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impacts may require counseling.
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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