WS1 Full gene sequence Analysis Wolfram Syndrome DIDMOAD Test
Cost: 7200.0 AED
Symptoms, Diagnosis, and Test Details
Wolfram syndrome, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare genetic disorder that affects multiple organ systems. It is caused by mutations in the WFS1 gene, which encodes a protein called wolframin. The WFS1 gene is located on chromosome 4p16.1 and contains 17 exons.
The full gene sequence analysis involves the sequencing of all 17 exons and their adjacent intronic regions. This analysis can be performed using various techniques, such as Sanger sequencing, next-generation sequencing (NGS), or targeted gene panel sequencing.
The mutations in the WFS1 gene can lead to a loss of function of the wolframin protein, which is involved in the regulation of cellular calcium homeostasis, endoplasmic reticulum (ER) stress response, and insulin secretion. The dysfunction of these cellular processes can result in the characteristic clinical features of Wolfram syndrome, such as diabetes mellitus, optic atrophy, deafness, and neurologic abnormalities.
The full gene sequence analysis of WFS1 can help in the diagnosis of Wolfram syndrome and can also identify the specific mutations in the gene. This information can be useful for genetic counseling, as well as for developing targeted therapies for the disorder.
Test Information
Test Name: WS1 Full gene sequence Analysis Wolfram Syndrome DIDMOAD Test
Components: Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml)
Price: 7200.0 AED
Sample Condition: Peripheral blood/Amniotic Fluid/ Chorionic villi/ Cord blood
Report Delivery: 4-6 weeks
Method: NGS
Test type: Genetics
Doctor: General Physician
Test Department: DNA Labs UAE
Pre Test Information
WS1 Full gene sequence Analysis (Wolfram Syndrome, DIDMOAD) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Conclusion
In conclusion, the full gene sequence analysis of WFS1 is a valuable tool for the diagnosis and management of Wolfram syndrome, a rare genetic disorder with significant clinical implications.
| Test Name | WS1 Full gene sequence Analysis Wolfram Syndrome DIDMOAD Test |
|---|---|
| Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) |
| Price | 7200.0 AED |
| Sample Condition | Peripheral blood\/Amniotic Fluid\/ Chorionic villi\/ Cord blood |
| Report Delivery | 4-6 weeks |
| Method | NGS |
| Test type | Genetics |
| Doctor | General Physician |
| Test Department: | |
| Pre Test Information | WS1 Full gene sequence Analysis (Wolfram Syndrome, DIDMOAD) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details | Wolfram syndrome, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare genetic disorder that affects multiple organ systems. It is caused by mutations in the WFS1 gene, which encodes a protein called wolframin. The WFS1 gene is located on chromosome 4p16.1 and contains 17 exons. The full gene sequence analysis involves the sequencing of all 17 exons and their adjacent intronic regions. This analysis can be performed using various techniques, such as Sanger sequencing, next-generation sequencing (NGS), or targeted gene panel sequencing. The mutations in the WFS1 gene can lead to a loss of function of the wolframin protein, which is involved in the regulation of cellular calcium homeostasis, endoplasmic reticulum (ER) stress response, and insulin secretion. The dysfunction of these cellular processes can result in the characteristic clinical features of Wolfram syndrome, such as diabetes mellitus, optic atrophy, deafness, and neurologic abnormalities. The full gene sequence analysis of WFS1 can help in the diagnosis of Wolfram syndrome and can also identify the specific mutations in the gene. This information can be useful for genetic counseling, as well as for developing targeted therapies for the disorder. In conclusion, the full gene sequence analysis of WFS1 is a valuable tool for the diagnosis and management of Wolfram syndrome, a rare genetic disorder with significant clinical implications. |
