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RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RAPSN gene fetal akinesia deformation sequence genetic test is a specialized diagnostic procedure aimed at identifying mutations in the RAPSN gene, which are linked to the development of fetal akinesia deformation sequence (FADS). FADS is a rare genetic disorder characterized by reduced fetal movement (akinesia), which can lead to a range of physical deformities and developmental issues in newborns, including joint contractures, facial anomalies, and lung hypoplasia. The RAPSN gene plays a crucial role in the development and function of the neuromuscular junction, and mutations in this gene can disrupt normal muscle movement and growth.

Performed at DNA Labs UAE, this test is an important tool for expecting parents with a family history of neuromuscular disorders or for cases where fetal akinesia or related deformities are suspected during pregnancy. Early and accurate diagnosis through this test can aid in the management of the condition and in making informed decisions regarding the pregnancy.

The cost of the RAPSN gene fetal akinesia deformation sequence genetic test at DNA Labs UAE is 4400 AED. This investment includes the collection of a sample, typically through amniocentesis or chorionic villus sampling, and comprehensive genetic analysis to detect any mutations in the RAPSN gene. Given the complexity and specificity of the test, it represents a critical step towards understanding the genetic underpinnings of FADS and facilitating better outcomes for affected families.

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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.

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