RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test
Short Name: RFX6 MODY NGS Test
Also known as: RFX6 Gene Sequencing Test, RFX6 MODY Genetic Test, RFX6 NGS Gene Panel, MODY RFX6 Related DNA Test, RFX6 Monogenic Diabetes Test
RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if applicable), Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp.. 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 RFX6 Gene MODY NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RFX6 gene that may cause maturity-onset diabetes of the young. This test is designed to provide a definitive molecular diagnosis for patients with suspected monogenic diabetes, enabling personalized treatment strategies and informed family planning decisions. Early and accurate identification of RFX6 mutations can guide appropriate pharmacological management and distinguish MODY from Type 1 or Type 2 diabetes.
- Test Code
- 2159
- CPT Code
- 81406
- ICD Code
- E13.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (if applicable), Bioinformatics Pipeline Analysis
Sample Collection
A detailed clinical history of the patient is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with maturity-onset diabetes of the young or RFX6-related disease. Inform the lab of any recent blood transfusions. No fasting is required prior to sample collection.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
A venous blood sample (3–5 mL) is collected in an EDTA (lavender-top) vacutainer tube. Alternatively, one drop of blood can be collected on an FTA card. Standard phlebotomy protocols are followed. The sample is labeled with patient identifiers and transported at ambient room temperature to the laboratory.
Report Delivery
After sample collection, the patient may resume normal activities. Results are typically available within 3 to 4 weeks. Genetic counselling is recommended after receiving results to discuss findings, implications, and next steps. Raw data, FASTQ files, and VCF files are provided along with the clinical report.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered through the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RFX6 Gene MODY NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the RFX6 gene that may cause maturity-onset diabetes of the young. This test is designed to provide a definitive molecular diagnosis for patients with suspected monogenic diabetes, enabling personalized treatment strategies and informed family planning decisions. Early and accurate identification of RFX6 mutations can guide appropriate pharmacological management and distinguish MODY from Type 1 or Type 2 diabetes.
How to Prepare
- Collect 3–5 mL venous blood in an EDTA (lavender top) vacutainer
- Alternatively, collect one drop of blood on an FTA card
- Label the sample with patient name, date of birth, and unique identifier
- Mix blood gently by inverting the tube 8-10 times
- Transport at ambient room temperature (15–25°C)
- Ensure sample reaches the laboratory within 48 hours of collection
- If using an FTA card, allow the blood spot to dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MODY is frequently misdiagnosed as Type 1 or Type 2 diabetes, leading to suboptimal treatment. Identifying an RFX6 gene mutation through NGS testing allows clinicians to tailor therapy precisely. Patients with confirmed MODY may benefit from sulfonylureas instead of insulin, dramatically improving quality of life. I strongly recommend genetic testing for any patient diagnosed with diabetes before age 25 who has a family history of early-onset diabetes across at least two generations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or unlabeled samples
- Samples collected in incorrect anticoagulant tubes (e.g., heparin)
- Samples older than 72 hours at room temperature
- Contaminated FTA cards
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the RFX6 gene has been identified. This confirms a genetic basis for the patient's diabetes and is consistent with RFX6-related MODY. Genetic counselling and family screening are recommended. Treatment can be personalized based on the molecular diagnosis.
Likely Pathogenic Variant Detected
A variant that is probably disease-causing has been identified in the RFX6 gene. Clinical correlation is advised. Family studies and follow-up testing may help confirm pathogenicity. Genetic counselling is recommended.
Variant of Uncertain Significance (VUS)
A genetic variant was detected in the RFX6 gene, but current evidence is insufficient to determine whether it is disease-causing or benign. Clinical correlation, family segregation studies, and periodic re-evaluation of the variant classification are recommended. This result should not be used to guide treatment decisions.
Likely Benign Variant Detected
A variant was detected in the RFX6 gene that is unlikely to be disease-causing based on current evidence. Clinical follow-up as indicated by the treating physician is recommended.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the RFX6 gene. This result does not completely exclude a genetic cause of diabetes, as mutations in other MODY-associated genes (such as HNF1A, HNF4A, GCK, HNF1B) or other genetic mechanisms may be responsible. Clinical correlation and further testing may be warranted.
Consult your doctor or a genetic counsellor if you or a family member has been diagnosed with diabetes before the age of 25, if there is a strong family history of diabetes across multiple generations, or if diabetes management is not responding to standard treatment. After receiving test results, genetic counselling is strongly recommended to understand the implications, discuss treatment options, and plan for family screening.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations unless specifically included in the panel design
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further clinical correlation
- ⚠Negative result does not completely rule out genetic predisposition to MODY as mutations in other genes or regulatory regions may be responsible
- ⚠Results should be interpreted in conjunction with clinical findings, family history, and other laboratory data
- ⚠Mosaicism at low levels may not be detected by standard NGS analysis
Risks & Considerations
- ●Minimal risk associated with blood collection – minor bruising or discomfort at the venipuncture site
- ●Psychological impact of receiving genetic test results, particularly if a pathogenic variant is identified
- ●Potential for identification of Variants of Uncertain Significance (VUS) which may cause anxiety
- ●Implications for family members who may also carry the mutation and require testing
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Blood sample contamination during collection or transport
- ●Recent blood transfusion may interfere with results
- ●Hemolyzed or clotted blood samples may compromise DNA extraction
Compare With Similar Tests
| Test | RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test | HNF1A Gene MODY NGS Genetic Test | GCK Gene MODY NGS Genetic Test | Comprehensive MODY Gene Panel |
|---|---|---|---|---|
| Comparison | RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test | HNF1A is the most common MODY gene causing MODY3. The RFX6 test specifically targets the RFX6 gene, while HNF1A tests screen for mutations in a different gene associated with the most prevalent form of MODY. | GCK mutations cause MODY2 (GCK-MODY), typically presenting as mild, stable fasting hyperglycemia. The RFX6 test targets a different gene linked to more variable diabetes presentations with possible pancreatic developmental involvement. | A comprehensive panel tests multiple MODY-associated genes simultaneously. The RFX6 single-gene test is more targeted and cost-effective when RFX6-related MODY is specifically suspected based on clinical or family history. |
Frequently Asked Questions
What is the RFX6 Gene MODY NGS Genetic Test?
Who should consider getting the RFX6 Gene MODY Genetic Test?
What sample is required for the RFX6 Gene MODY NGS Genetic Test?
What is the cost of the RFX6 Gene MODY NGS Genetic Test at DNA Labs India?
How long does it take to receive the results of the RFX6 Gene MODY Genetic Test?
What is MODY and how is it different from Type 1 and Type 2 diabetes?
What is the role of the RFX6 gene in MODY?
Is genetic counselling recommended before and after the RFX6 Gene MODY test?
What does a positive result (pathogenic variant detected) mean?
Is home sample collection available for the RFX6 Gene MODY test?
Will I receive raw data files along with the clinical report?
What happens if the test result is negative (no pathogenic variant detected)?
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