RFX6 Gene Mitchell-Riley Syndrome Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
Mitchell-Riley syndrome (MRS) is a rare genetic disorder associated with the RFX6 gene. It is characterized by neonatal diabetes mellitus, developmental delay, pancreatic agenesis, intestinal malrotation, and structural abnormalities of the heart, kidneys, and genitalia. To diagnose MRS, a genetic test is required.
Test Details
The RFX6 Gene Mitchell-Riley Syndrome Genetic Test is a Next-Generation Sequencing (NGS) genetic test that analyzes multiple genes simultaneously. It uses high-throughput sequencing technology to detect genetic mutations or variants, including point mutations, small insertions or deletions, and larger structural variants.
The test involves obtaining a DNA sample, which can be extracted from blood or collected using a cheek swab or one drop of blood on an FTA card. The DNA sample is then sequenced using NGS technology. The test results, available within 3 to 4 weeks, provide a comprehensive analysis of the RFX6 gene and other relevant genes associated with neonatal diabetes and related conditions.
Test Department and Doctor
The RFX6 Gene Mitchell-Riley Syndrome Genetic Test is conducted in the Genetics department of DNA Labs UAE. The test can be requested by a General Physician.
Pre Test Information
Prior to the test, it is recommended to provide the clinical history of the patient who is undergoing the genetic test. Additionally, a Genetic Counselling session is advised to draw a pedigree chart of family members affected by Mitchell-Riley syndrome.
Report Delivery
The test results are delivered within 3 to 4 weeks after the DNA sample is obtained and sequenced.
Importance and Implications
The RFX6 Gene Mitchell-Riley Syndrome Genetic Test helps confirm a diagnosis of Mitchell-Riley syndrome and provides crucial information for medical management and genetic counseling. It allows healthcare professionals to understand the specific genetic mutations or variants present in the RFX6 gene and other relevant genes. This information can guide treatment decisions and help individuals and their families make informed choices regarding their healthcare.
It is important to consult with a healthcare professional or genetic counselor to discuss the specific details and implications of the RFX6 gene Mitchell-Riley syndrome NGS genetic test. They can provide information about any potential risks, limitations, or costs associated with the test.
| Test Name | RFX6 Gene Mitchell-Riley syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for RFX6 Gene Mitchell-Riley syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mitchell-Riley syndrome |
| Test Details |
The RFX6 gene is associated with a rare genetic disorder called Mitchell-Riley syndrome (MRS). MRS is characterized by neonatal diabetes mellitus (diabetes diagnosed within the first six months of life) and a range of other symptoms, including pancreatic agenesis (absence of the pancreas), developmental delay, intestinal malrotation (abnormal positioning of the intestines), and structural abnormalities of the heart, kidneys, and genitalia. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that analyzes multiple genes simultaneously using high-throughput sequencing technology. It allows for the detection of various genetic mutations or variants in a single test, including point mutations, small insertions or deletions, and larger structural variants. NGS can be particularly useful in diagnosing genetic disorders like Mitchell-Riley syndrome, as it allows for a comprehensive analysis of the RFX6 gene and other relevant genes associated with neonatal diabetes and related conditions. The NGS genetic test for Mitchell-Riley syndrome would involve obtaining a DNA sample, typically through a blood sample or cheek swab, from the individual suspected of having the condition. The DNA is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variants in the RFX6 gene or other relevant genes. The test results can help confirm a diagnosis of Mitchell-Riley syndrome and provide important information for medical management and genetic counseling. It is important to consult with a healthcare professional or genetic counselor to discuss the specific details and implications of the RFX6 gene Mitchell-Riley syndrome NGS genetic test, as well as any potential risks, limitations, or costs associated with the test. |
