DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test
Welcome to DNA Labs UAE, where we offer the DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test. This test is designed to diagnose individuals with the rare genetic disorder known as fetal akinesia deformation sequence (FADS), which is caused by mutations in the DOK7 gene.
Test Details
The DOK7 gene is responsible for producing a protein called Dok-7, which plays a crucial role in the development and function of neuromuscular junctions. Mutations in the DOK7 gene can lead to FADS, a condition characterized by decreased fetal movement (akinesia) and multiple joint contractures (deformations).
Our DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test utilizes NGS (Next-Generation Sequencing) technology, allowing for the simultaneous analysis of multiple genes, including the DOK7 gene. This highly sensitive and efficient method can identify specific mutations or genetic variants associated with FADS.
Symptoms and Diagnosis
Individuals with FADS may experience muscle weakness, poor muscle tone, and limited movement due to impaired neuromuscular transmission caused by the absence or dysfunction of Dok-7 protein. To accurately diagnose FADS, a clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of affected family members.
Test Components and Cost
Our DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test costs 4400.0 AED. The test can be performed using blood or extracted DNA, or even just one drop of blood on an FTA Card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted using NGS technology, ensuring accurate and efficient results.
Test Type and Doctor
The DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test falls under the category of dysmorphology. It is recommended to consult a pediatrician for this test.
Test Department and Pre-Test Information
The DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test is conducted in our Genetics department. It is essential to provide the clinical history of the patient before undergoing the test. This information helps in accurate diagnosis and genetic counseling.
By choosing our DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test, you can gain valuable insights into your genetic makeup, aiding in diagnosis, genetic counseling, and potentially guiding treatment options for both affected individuals and their families.
| Test Name | DOK7 Gene Fetal akinesia deformation sequence 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for DOK7 Gene Fetal akinesia deformation sequence NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DOK7 Gene Fetal akinesia deformation sequence NGS Genetic DNA Test gene DOK7 |
| Test Details |
The DOK7 gene is responsible for producing a protein called Dok-7, which plays a crucial role in the development and function of neuromuscular junctions. Mutations in the DOK7 gene can lead to a condition known as fetal akinesia deformation sequence (FADS). FADS is a rare genetic disorder characterized by decreased fetal movement (akinesia) and multiple joint contractures (deformations). It is caused by impaired neuromuscular transmission due to the absence or dysfunction of Dok-7 protein. This leads to muscle weakness, poor muscle tone, and limited movement in affected individuals. NGS (Next-Generation Sequencing) is a genetic testing technique that allows for the simultaneous analysis of multiple genes, including the DOK7 gene. It is a highly sensitive and efficient method for identifying mutations or genetic variants that may be responsible for FADS. By performing NGS genetic testing, healthcare professionals can identify specific mutations in the DOK7 gene that are associated with FADS. This information can help with accurate diagnosis, genetic counseling, and potentially guiding treatment options for affected individuals and their families. |
