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DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test Cost

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

-21%

The DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test is a specialized diagnostic examination offered by DNA Labs UAE, designed to identify mutations in the DOK7 gene, which can lead to Fetal Akinesia Deformation Sequence (FADS). FADS is a rare genetic disorder characterized by reduced fetal movement (akinesia), which can result in a range of physical deformities and developmental issues. These can include joint contractures, lung hypoplasia, facial anomalies, and in severe cases, fetal death.

The DOK7 gene plays a crucial role in the development and maintenance of the neuromuscular junction, which is essential for muscle contraction. Mutations in this gene can disrupt normal neuromuscular signaling, leading to the symptoms associated with FADS. The test offered by DNA Labs UAE employs advanced genetic sequencing techniques to analyze the DOK7 gene for known mutations that are linked to this condition.

This test is particularly valuable for expecting parents with a family history of FADS or related neuromuscular disorders, as it can provide critical insights into the health and development of the fetus. Additionally, it can aid healthcare professionals in planning appropriate medical management and support for affected individuals and their families.

The cost of the DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify mutations in the DOK7 gene, offering peace of mind and vital information for affected families.

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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.

SKU: TEST-4108 Category:

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