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RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test

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RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test

Short Name: RFX6 Mitchell-Riley Syndrome Test

Also known as: Mitchell-Riley Pancreatic Agenesis Syndrome, RFX6-Related Mitchell-Riley Syndrome, RFX6 Gene Mutation Analysis, Mitchell-Riley Syndrome Genetic Panel

RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (Confirmation) 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 collection.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 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

The purpose of this test is to detect mutations in the RFX6 gene to confirm or rule out a diagnosis of Mitchell-Riley Syndrome. It aids clinicians in initiating early treatment strategies including insulin therapy, enzyme replacement, and nutritional management to improve patient outcomes.

Test Code
2186
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 collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing (Confirmation)
Step 1

Sample Collection

Genetic counselling session is recommended prior to sample collection. A detailed clinical history and family pedigree chart should be prepared. No fasting is required. Inform the lab about any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A simple venipuncture blood draw of 3-5 mL into an EDTA vacutainer is performed. Alternatively, one drop of blood on an FTA card may be used. The procedure typically takes less than 5 minutes.

Step 3

Report Delivery

Apply gentle pressure on the venipuncture site with sterile gauze. The sample is processed and sent to the genetics laboratory for NGS analysis. Reports are typically available within 3 to 4 weeks.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session. Provide complete clinical history, family pedigree information, and signed informed consent form. No fasting is required. Inform the lab of any recent blood transfusions or bone marrow transplants.
2
During the Test:A blood sample of 3-5 mL is drawn via venipuncture into an EDTA vacutainer, or blood is applied to an FTA card. The process is quick and minimally invasive, typically completed in under 5 minutes.
3
After the Test:After sample collection, mild soreness at the venipuncture site is normal. The sample is sent for NGS laboratory processing. Monitor for results via the online portal, email, or WhatsApp within 3 to 4 weeks. Discuss results with your geneticist or physician.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the RFX6 gene to confirm or rule out a diagnosis of Mitchell-Riley Syndrome. It aids clinicians in initiating early treatment strategies including insulin therapy, enzyme replacement, and nutritional management to improve patient outcomes.

How to Prepare

  • Collect 3-5 mL of peripheral blood in an EDTA (lavender-top) vacutainer
  • Alternatively, apply one drop of blood to an FTA card and allow to dry completely
  • Label the sample clearly with patient name, date of birth, and sample ID
  • Store at ambient room temperature (15-30°C) and transport within 48 hours
  • Ensure genetic consent form is signed before sample collection
  • Provide complete clinical history and family pedigree information

Doctor's Notes

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

"Mitchell-Riley Syndrome is a rare but clinically significant cause of neonatal diabetes and pancreatic insufficiency. Early genetic confirmation through RFX6 gene analysis using NGS technology allows for timely initiation of insulin therapy, pancreatic enzyme replacement, and nutritional support. Families with consanguinity or a history of neonatal diabetes should consider genetic testing and counselling to guide management and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

EDTA Blood at Ambient Temperature (15-30°C)
EDTA Blood at 2-8°C
Extracted DNA at -20°C
FTA Card (dried blood spot)
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Sample collected in incorrect anticoagulant tube (non-EDTA)
  • Unlabeled or mismatched sample identification
  • Sample received after stability window has expired
  • Missing signed genetic consent form

Understanding Your Results

The results of the RFX6 Gene Mitchell-Riley Syndrome NGS Genetic Test should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, family history, and other diagnostic findings. A positive result confirms the genetic basis of the condition, while a negative result does not entirely exclude the diagnosis if clinical suspicion remains high.
📊

Pathogenic Variant(s) Detected

Confirms a genetic diagnosis of Mitchell-Riley Syndrome. Homozygous or compound heterozygous pathogenic variants in RFX6 are consistent with autosomal recessive inheritance. Clinical management including insulin therapy, enzyme replacement, and nutritional support should be initiated. Genetic counselling for the family is recommended.

📊

Likely Pathogenic Variant(s) Detected

Strong evidence supports the association of the detected variant(s) with Mitchell-Riley Syndrome. Correlation with clinical findings and family studies is advised. Follow-up genetic counselling is recommended.

📊

Variant of Uncertain Significance (VUS)

The detected variant does not have sufficient evidence to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and periodic re-evaluation are recommended. This result alone should not be used for clinical decision-making.

📊

No Pathogenic Variant Detected

No disease-causing mutations were identified in the RFX6 gene. This does not completely exclude Mitchell-Riley Syndrome, as mutations in other genes or undetectable structural variants may be responsible. Further clinical evaluation and additional genetic testing may be considered.

📊

Carrier Status Identified

A single heterozygous pathogenic variant in the RFX6 gene was detected. The individual is a carrier and typically does not show symptoms of Mitchell-Riley Syndrome. Genetic counselling is recommended for family planning purposes, especially if the partner is also a carrier.

⚠️ When to Consult a Doctor:

Consult your doctor or clinical geneticist if the test result is positive, if a Variant of Uncertain Significance is detected, or if clinical symptoms persist despite a negative result. Families with a confirmed case should seek genetic counselling for understanding inheritance risks, management options, and reproductive planning.

Limitations

  • ⚠This test does not detect large structural rearrangements or copy number variations in all cases
  • ⚠Deep intronic mutations outside the targeted region may not be identified
  • ⚠Variants of Uncertain Significance (VUS) may be reported requiring further clinical correlation
  • ⚠This test does not screen for mutations in other genes associated with neonatal diabetes or pancreatic disorders
  • ⚠A negative result does not completely exclude a genetic basis for the clinical presentation

Risks & Considerations

  • ●Minimal risk associated with blood draw – mild bruising or soreness at the venipuncture site
  • ●Psychological impact of genetic diagnosis – genetic counselling is recommended before and after testing
  • ●Potential identification of Variants of Uncertain Significance that may cause anxiety

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion within 4 weeks may affect results
  • ●Improper sample storage or transport conditions
  • ●Insufficient sample volume

Compare With Similar Tests

TestRFX6 Gene Mitchell-Riley syndrome NGS Genetic TestWhole Exome Sequencing (WES)Neonatal Diabetes PanelCFTR Gene Mutation Analysis
ComparisonRFX6 Gene Mitchell-Riley syndrome NGS Genetic TestWES analyzes all protein-coding genes and may identify mutations beyond the RFX6 gene. It is recommended when the clinical presentation is complex or when RFX6 testing is negative but suspicion remains.A targeted panel covering multiple genes associated with neonatal diabetes including KCNJ11, ABCC8, INS, and RFX6. Useful when the specific genetic cause is uncertain.Tests for cystic fibrosis gene mutations which can also cause exocrine pancreatic insufficiency. May be considered in the differential diagnosis of pancreatic dysfunction.

Frequently Asked Questions

What is Mitchell-Riley Syndrome?
Mitchell-Riley Syndrome is a rare autosomal recessive genetic disorder caused by mutations in the RFX6 gene. It primarily affects the pancreas, leading to neonatal diabetes mellitus, exocrine pancreatic insufficiency, intestinal malrotation, and other gastrointestinal complications. Early diagnosis through genetic testing is essential for timely management.
What causes Mitchell-Riley Syndrome?
Mitchell-Riley Syndrome is caused by biallelic mutations (two mutated copies) in the RFX6 gene located on chromosome 6q22.1. The RFX6 gene encodes a transcription factor essential for the development of pancreatic islet cells. Mutations disrupt normal pancreas development, resulting in the clinical features of the syndrome. It follows autosomal recessive inheritance, meaning both parents must be carriers.
What are the common symptoms of Mitchell-Riley Syndrome?
Common symptoms include neonatal or early-onset diabetes mellitus, exocrine pancreatic insufficiency causing malabsorption and malnutrition, intestinal malrotation, recurrent infections, delayed growth and development, jaundice, chronic diarrhea, vomiting, and abdominal pain. Symptoms typically appear during infancy or early childhood and vary in severity.
How is Mitchell-Riley Syndrome diagnosed?
Diagnosis is confirmed through genetic testing using Next-Generation Sequencing (NGS) to identify mutations in the RFX6 gene. A simple blood sample is required. Clinical evaluation by a specialist, detailed family history, and genetic counselling are also important components of the diagnostic workup.
What is the RFX6 gene and what does it do?
The RFX6 gene (Regulatory Factor X6) encodes a transcription factor that is critical for the differentiation and function of pancreatic islet cells, particularly beta cells that produce insulin. Mutations in this gene impair pancreatic development and insulin secretion, leading to diabetes and related complications seen in Mitchell-Riley Syndrome.
What is Next-Generation Sequencing (NGS) and how does it work?
Next-Generation Sequencing (NGS) is an advanced molecular testing technology that enables rapid and simultaneous sequencing of multiple genes or an entire genome. For the RFX6 gene test, NGS reads the DNA sequence of the gene at high depth to accurately detect point mutations, small insertions, deletions, and splice-site variants. It offers high sensitivity and specificity compared to traditional sequencing methods.
What sample is required for the RFX6 Gene NGS Genetic Test?
The test requires either 3-5 mL of peripheral blood collected in an EDTA (lavender-top) vacutainer, extracted DNA, or one drop of blood on an FTA card. The sample collection is simple, non-invasive, and can be done at home through DNA Labs India's free home collection service.
How long does it take to get the test results?
Results of the RFX6 Gene Mitchell-Riley Syndrome NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. The report can be accessed through the online portal, received via email, or delivered through WhatsApp for convenience.
Is this test available across India?
Yes, DNA Labs India offers this test with free home sample collection across numerous cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, and many more. You can book the test online and have a phlebotomist visit your home for sample collection.
What is the cost of the RFX6 Gene Mitchell-Riley Syndrome NGS Genetic Test?
The test is priced at INR 20,000 (twenty thousand rupees) across India at a special discounted rate. This cost includes sample collection, laboratory processing, NGS analysis, genetic interpretation, and digital report delivery. Free home sample collection is included for online bookings.
Is genetic counselling required before this test?
A genetic counselling session is strongly recommended before testing. During the session, a clinical geneticist will prepare a pedigree chart of the family, explain the inheritance pattern of Mitchell-Riley Syndrome, discuss the implications of possible results, and address any concerns. Counselling is also recommended after receiving results for proper interpretation and management planning.
Can this test identify carriers of Mitchell-Riley Syndrome?
Yes, the RFX6 Gene NGS Genetic Test can identify individuals who carry a single heterozygous pathogenic mutation in the RFX6 gene. Carriers typically do not show symptoms of Mitchell-Riley Syndrome but can pass the mutation to their offspring. Carrier testing is important for family planning, especially in families with a history of the condition or in communities with higher rates of consanguinity.
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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