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HNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic Test

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HNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic Test

Short Name: HNF4A Gene MODY1 Test

Also known as: MODY1 Genetic Test, HNF4A Mutation Analysis, Maturity-onset diabetes of the young type 1 test

HNF4A Gene Maturity-onset diabetes of the young type 1 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 3-4 weeks. Free home collection in 300+ cities across India.

Genetic TestAdolescents and young 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 identify mutations in the HNF4A gene for the diagnosis of Maturity-onset diabetes of the young type 1 (MODY1).

Test Code
2144
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Inform the laboratory of any medications or medical conditions.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid heavy lifting or strenuous activity for a few hours.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications, benefits, and limitations of the test.
2
During the Test:The test involves a blood draw from a vein or sample collection on an FTA card, processed using NGS technology.
3
After the Test:Results are available in 3-4 weeks. Discuss the findings with your healthcare provider for appropriate next steps.

About This Test

Who Should Get This Test

To identify mutations in the HNF4A gene for the diagnosis of Maturity-onset diabetes of the young type 1 (MODY1).

How to Prepare

  • Wash hands thoroughly before collection
  • Use sterile equipment and follow aseptic techniques
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature as specified

Doctor's Notes

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

"Early genetic testing for MODY1 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 VolumeStandard blood volume
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood in EDTA tube
FTA card with blood
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed blood sample
  • Unlabeled or improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the HNF4A gene. A positive result confirms a diagnosis of MODY1, while a negative result may suggest other forms of diabetes or genetic conditions.
📊

Positive for HNF4A mutation

Confirms Maturity-onset diabetes of the young type 1 (MODY1). Genetic counseling is recommended for family screening and management.

📊

Negative for HNF4A mutation

MODY1 is unlikely based on this gene. Consider other genetic or non-genetic causes of diabetes.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, or functional analysis may be needed to determine the variant's clinical significance.

⚠️ When to Consult a Doctor:

If you experience symptoms of diabetes such as increased thirst or frequent urination, or have a family history of MODY, consult a geneticist or endocrinologist for evaluation and possible genetic testing.

Limitations

  • ⚠Only detects mutations in the HNF4A gene
  • ⚠May not identify all genetic causes of MODY or diabetes
  • ⚠Results should be interpreted in conjunction with clinical findings

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●Psychological impact of receiving genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Improper sample storage

Compare With Similar Tests

TestHNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic TestHNF1A Gene Maturity-onset diabetes of the young type 2 NGS Genetic TestGCK Gene Maturity-onset diabetes of the young type 2 NGS Genetic TestFasting Blood Sugar TestGlycated Hemoglobin (HbA1c) Test
ComparisonHNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic TestDetects mutations for MODY3, another common type of MODY with similar symptoms.Identifies mutations for MODY2, characterized by mild, stable hyperglycemia.General screening for diabetes, not specific for MODY diagnosis.Measures average blood sugar levels over time, used for diabetes management but not genetic confirmation.

Frequently Asked Questions

What is the HNF4A Gene MODY1 Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the HNF4A gene, responsible for Maturity-onset diabetes of the young type 1 (MODY1), a rare form of diabetes affecting young adults.
Who should get this test?
Individuals with symptoms of diabetes at a young age, a family history of MODY, or those with an atypical diabetes presentation should consider this test for accurate diagnosis.
How is the test performed?
A blood sample is collected via venipuncture or an FTA card, and the DNA is analyzed using NGS technology to identify mutations in the HNF4A gene.
What are the symptoms of MODY1?
Symptoms include increased thirst, frequent urination, high blood sugar levels, blurred vision, fatigue, and weight loss, similar to other types of diabetes.
How accurate is the test?
The test uses advanced NGS technology for high accuracy in detecting HNF4A gene mutations, but results should be interpreted alongside clinical findings.
What does a positive result mean?
A positive result confirms a diagnosis of MODY1, indicating the presence of a pathogenic mutation in the HNF4A gene, and genetic counseling is recommended.
What does a negative result mean?
A negative result suggests that mutations in the HNF4A gene are not detected, meaning MODY1 is unlikely, and other causes of diabetes should be explored.
Is there any preparation required?
No specific preparation is needed, but inform the lab about any medications or health conditions before sample collection.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the cost of the test?
The cost of the HNF4A Gene MODY1 Test is INR 20,000, with possible discounts and home collection included.
Are there any risks associated with the test?
The test involves minimal risks, such as minor pain or bruising from blood draw, and the psychological impact of genetic results, which should be discussed with a counselor.
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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