HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test
Short Name: HNF1B MODY Type 5 NGS Test
Also known as: HNF1B Gene MODY5 Test, HNF1B Mutation Analysis, HNF1B NGS Sequencing Test, MODY Type 5 Genetic Test, Hepatocyte Nuclear Factor 1-Beta Gene Test
HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the HNF1B Gene MODY Type 5 NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the HNF1B gene that cause Maturity-onset diabetes of the young type 5. This test enables definitive molecular diagnosis in patients with early-onset diabetes who have atypical features or a strong family history, guides personalised treatment decisions, identifies associated multi-organ complications (particularly renal), and facilitates predictive testing in asymptomatic family members at risk of inheriting the mutation.
- Test Code
- 2156
- CPT Code
- 81479
- ICD Code
- E13
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Sample Collection
No special preparation or fasting is required. Provide complete clinical history and a detailed family pedigree during the pre-test genetic counselling session. Inform the laboratory of any recent blood transfusions or bone marrow transplants.
Method: Venipuncture or finger-prick (FTA card)
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of peripheral venous blood in an EDTA tube via standard venipuncture. Alternatively, a single drop of blood can be spotted onto an FTA card. For extracted DNA samples, ensure the DNA is in an appropriate buffer and adequately quantified.
Report Delivery
The sample will be transported to DNA Labs India under temperature-controlled conditions. Genetic counselling will be arranged to discuss the pedigree chart, test implications, and potential outcomes. Reports are delivered within 3 to 4 weeks via the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HNF1B Gene MODY Type 5 NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the HNF1B gene that cause Maturity-onset diabetes of the young type 5. This test enables definitive molecular diagnosis in patients with early-onset diabetes who have atypical features or a strong family history, guides personalised treatment decisions, identifies associated multi-organ complications (particularly renal), and facilitates predictive testing in asymptomatic family members at risk of inheriting the mutation.
How to Prepare
- Use an EDTA (lavender-top) blood collection tube; avoid heparin tubes as heparin can interfere with downstream molecular assays
- Gently invert the tube 8-10 times immediately after collection to prevent clotting
- If using an FTA card, allow the blood spot to air-dry completely at room temperature before packaging
- Label the sample clearly with patient name, date of birth, date and time of collection, and collector's initials
- Store the sample at ambient room temperature (15-30°C) and ship to the laboratory within 48 hours of collection
- Complete the test request form with full clinical history, family history details, and referring physician information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MODY Type 5 due to HNF1B mutations often presents with diabetes alongside renal anomalies such as renal cysts or structural kidney defects. Genetic confirmation through NGS is essential because it guides treatment decisions — patients with HNF1B-MODY may respond differently to sulfonylureas or insulin compared to Type 1 or Type 2 diabetes. Identifying the specific mutation also enables cascade testing of at-risk family members, allowing early detection and management of both diabetes and associated renal disease before complications develop."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a heparinised tube
- Clotted blood sample in EDTA tube
- Insufficient sample volume (less than 1 mL blood)
- Haemolysed, severely lipaemic, or contaminated sample
- Sample without proper labelling or completed requisition form
- Sample received more than 72 hours after collection without cold chain maintenance
- FTA card that is wet, mouldy, or contaminated
Understanding Your Results
Pathogenic variant detected
A known disease-causing mutation in the HNF1B gene has been identified. This confirms a molecular diagnosis of MODY Type 5. Associated renal, pancreatic, and hepatic complications should be screened. Family members should be offered cascade genetic testing.
Action: Consult your endocrinologist and clinical geneticist for personalised treatment planning, complication screening, and family counselling.
Likely pathogenic variant detected
A variant strongly suspected to cause disease based on available evidence, though not yet definitively proven. Clinical features and family co-segregation should be evaluated.
Action: Consult your clinical geneticist. Additional family studies and periodic variant reclassification are recommended.
Variant of Uncertain Significance (VUS)
A genetic change was identified, but current evidence is insufficient to classify it as pathogenic or benign. This result cannot be used to confirm or exclude MODY Type 5.
Action: Discuss with your clinical geneticist. Testing of affected and unaffected family members may help clarify the variant's significance. The classification may be updated as new research becomes available.
Likely benign / Benign variant detected
The variant identified is considered unlikely to be disease-causing or is a known benign polymorphism. This does not explain the patient's diabetes phenotype.
Action: Discuss alternative diagnostic possibilities with your physician, including testing for other MODY genes or reassessing the diabetes classification.
No pathogenic variants detected
No disease-causing mutations were identified in the HNF1B gene. This makes MODY Type 5 unlikely but does not completely exclude a genetic aetiology, as mutations in other genes or undetectable variant types may be responsible.
Action: Consult your endocrinologist to consider alternative MODY subtypes, broader gene panel testing, or re-evaluation of the clinical diagnosis.
Consult your endocrinologist or clinical geneticist promptly if: a pathogenic or likely pathogenic HNF1B variant is detected; you receive a VUS result and need guidance on next steps; your test is negative but clinical suspicion for MODY remains high; you wish to arrange cascade testing for family members; or you need advice on management of diabetes and associated renal or other systemic complications.
Limitations
- ⚠This test targets the coding regions and immediate splice-site boundaries of the HNF1B gene; deep intronic mutations, large copy number variations, or regulatory region variants may not be detected
- ⚠The clinical significance of certain identified variants may remain uncertain (VUS) and may require reclassification as new evidence emerges
- ⚠A negative result does not entirely exclude a genetic aetiology for diabetes, as other MODY genes or novel genes may be involved
- ⚠Mosaicism at low allele frequencies below the detection threshold of NGS may not be identified
- ⚠This test is not designed to detect mitochondrial DNA variants associated with diabetes
Risks & Considerations
- ●Minor discomfort, bruising, or slight pain at the venipuncture site
- ●Very small risk of infection at the needle insertion site (standard phlebotomy risk)
- ●Potential psychological impact of receiving a genetic diagnosis — genetic counselling is provided before and after testing to support informed decision-making
- ●Identification of incidental findings or variants of uncertain significance may cause anxiety; counselling support is available
Interfering Factors
- ●Degraded or insufficient DNA quality may reduce sequencing coverage and affect variant detection sensitivity
- ●Recent blood transfusion within the preceding 4 weeks may introduce donor DNA and confound results
- ●Sample contamination during collection or transport can lead to false variant calls or sequencing failure
- ●Haematological malignancies with high white cell counts may alter the proportion of germline versus somatic DNA
Compare With Similar Tests
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| Comparison | HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test |
Frequently Asked Questions
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