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PDX1 Gene Maturity-onset diabetes of the young type 4 NGS Genetic Test

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PDX1 Gene Maturity-onset diabetes of the young type 4 NGS Genetic Test

Short Name: MODY Type 4 Genetic Test

Also known as: MODY4, PDX1 MODY, Diabetes due to PDX1 mutation

PDX1 Gene Maturity-onset diabetes of the young type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Saliva samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestChildren and adults🏠 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

To detect mutations in the PDX1 gene that cause Maturity-onset diabetes of the young type 4, aiding in accurate diagnosis, management, and genetic counseling.

Test Code
2149
Price
₹20,000
Sample Type
Blood or Saliva
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications, medical conditions, or recent blood transfusions.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture into an EDTA tube, or saliva sample collected using a sterile kit, following standard aseptic techniques.

Step 3

Report Delivery

Apply gentle pressure to the puncture site for blood draw. Ensure sample is labeled correctly and sent to the laboratory promptly.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation required. Provide clinical and family history as indicated.
2
During the Test:Sample collection procedure takes a few minutes with minimal discomfort.
3
After the Test:Resume normal activities. Sample processed in the laboratory.

About This Test

Who Should Get This Test

To detect mutations in the PDX1 gene that cause Maturity-onset diabetes of the young type 4, aiding in accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Avoid eating, drinking, or smoking for 30 minutes before saliva collection
  • For blood collection, use an EDTA tube and mix gently
  • Ensure sample is labeled with patient details and date
  • Store sample at room temperature or refrigerate if delayed

Doctor's Notes

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

"Early genetic testing for MODY can guide personalized treatment and genetic counseling for families, especially in young-onset diabetes cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Saliva
Collection MethodVenipuncture or saliva collection

Sample Stability

24 hours for blood, 48 hours for saliva
7 days for blood, 5 days for saliva
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Unlabeled or improperly stored sample
  • Use of wrong collection container

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PDX1 gene, which is associated with MODY type 4.
📊

No pathogenic variant detected

No evidence of PDX1-related MODY. Clinical correlation and other tests may be advised if symptoms persist.

📊

Pathogenic or likely pathogenic variant detected

Confirms diagnosis of MODY type 4. Genetic counseling, family screening, and personalized management recommended.

📊

Variant of uncertain significance (VUS)

Variant significance unclear. Further testing, family studies, or clinical follow-up may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of young-onset diabetes, experience symptoms of diabetes, or need guidance on test results and management.

Limitations

  • ⚠Only detects mutations in the PDX1 gene
  • ⚠May not identify all types of genetic variants
  • ⚠Results require correlation with clinical and family history

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness, or infection
  • ●Potential psychological impact from genetic results
  • ●Risk of misinterpretation without genetic counseling

Interfering Factors

  • ●Contaminated or degraded sample
  • ●Improper sample storage or handling
  • ●Use of anticoagulants other than EDTA for blood

Frequently Asked Questions

What is MODY type 4?
MODY type 4 is a rare genetic form of diabetes caused by mutations in the PDX1 gene, leading to reduced insulin production and high blood sugar levels.
How is the PDX1 gene NGS test performed?
The test uses Next-Generation Sequencing to analyze the PDX1 gene from a blood or saliva sample, detecting mutations associated with MODY type 4.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India in major cities.
How accurate is the NGS genetic test for MODY?
NGS is highly accurate for detecting known mutations, but results should be correlated with clinical and family history for diagnosis.
What if the test is positive for a PDX1 mutation?
A positive result confirms MODY type 4, allowing for personalized treatment and genetic counseling for family members.
Can children take this test?
Yes, the test is suitable for all ages, especially if there is a family history of young-onset diabetes.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from sample collection.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer directly.
What is the role of the PDX1 gene?
The PDX1 gene provides instructions for making a protein essential for pancreas development and insulin production.
How is MODY different from type 1 and type 2 diabetes?
MODY is caused by single-gene mutations, often presenting in youth with a strong family history, unlike autoimmune type 1 or lifestyle-related type 2 diabetes.
Where can I get tested for MODY type 4?
You can book the test through DNA Labs India with home collection or visit a partnered clinic in cities like Mumbai, Delhi, Bangalore, and more.
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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✓ 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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