RAPSN Gene Fetal akinesia deformation sequence Genetic Test
At DNA Labs UAE, we offer the RAPSN Gene Fetal akinesia deformation sequence Genetic Test to help diagnose and manage this rare genetic disorder. This blog post will provide detailed information about the test, including its components, cost, symptoms, diagnosis process, and more.
Test Details
The RAPSN gene is responsible for producing a protein called receptor-associated protein of the synapse (RAPSN), which plays a crucial role in the development and function of the neuromuscular junction. Mutations in the RAPSN gene can lead to a condition known as fetal akinesia deformation sequence (FADS).
FADS is characterized by decreased fetal movement (akinesia) and multiple joint contractures, resulting in abnormal positioning of the limbs. Other symptoms may include respiratory problems, feeding difficulties, and abnormalities of the face and spine.
Test Components and Price
The RAPSN Gene Fetal akinesia deformation sequence Genetic Test is priced at 4400.0 AED. The test can be performed using either blood or extracted DNA, or even just one drop of blood on an FTA Card.
Report Delivery and Method
Once the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes.
Test Type and Doctor
The RAPSN Gene Fetal akinesia deformation sequence Genetic Test falls under the category of dysmorphology tests. It is recommended to consult with a pediatrician who specializes in genetics.
Test Department and Pre Test Information
The test is conducted in our Genetics department. Prior to the test, it is important to provide the clinical history of the patient who will be undergoing the RAPSN Gene Fetal akinesia deformation sequence NGS Genetic DNA Test. Additionally, a genetic counseling session may be arranged to draw a pedigree chart of family members affected by the RAPSN Gene Fetal akinesia deformation sequence NGS Genetic DNA Test gene RAPSN.
Benefits of NGS Genetic Testing
NGS genetic testing is a powerful tool that can help identify mutations in the RAPSN gene or other genes associated with similar phenotypes. By pinpointing the specific genetic mutation causing FADS, this test provides a definitive diagnosis and assists in treatment and management strategies. It also offers valuable information about the inheritance pattern of the condition, which is crucial for family planning and genetic counseling.
At DNA Labs UAE, we are committed to providing accurate and timely genetic testing services. If you suspect FADS or have any concerns, do not hesitate to contact us and schedule a consultation.
| Test Name | RAPSN 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 RAPSN Gene Fetal akinesia deformation sequence NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAPSN Gene Fetal akinesia deformation sequence NGS Genetic DNA Test gene RAPSN |
| Test Details |
The RAPSN gene is responsible for producing a protein called receptor-associated protein of the synapse (RAPSN), which is important for the development and function of the neuromuscular junction. Mutations in the RAPSN gene can lead to a condition called fetal akinesia deformation sequence (FADS). FADS is a rare genetic disorder characterized by decreased fetal movement (akinesia) and multiple joint contractures, which result in abnormal positioning of the limbs. Other features of FADS can include respiratory problems, feeding difficulties, and abnormalities of the face and spine. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of FADS, NGS genetic testing can be used to identify mutations in the RAPSN gene or other genes associated with similar phenotypes. By identifying the specific genetic mutation causing FADS, NGS genetic testing can provide a definitive diagnosis and help guide treatment and management strategies. It can also provide information about the inheritance pattern of the condition, which can be important for family planning and genetic counseling. |
