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MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test Cost

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

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The MYO18B gene is associated with a rare genetic disorder known as Klippel-Feil Syndrome Type 4, which is characterized by the congenital fusion of any two of the seven cervical vertebrae. It is an autosomal dominant condition, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. This particular type of Klippel-Feil Syndrome is unique because it is also associated with myopathy, a muscle disorder that affects muscle tone or strength, and facial dysmorphism, which refers to a group of facial abnormalities that occur together in a recognizable pattern.

To diagnose this complex condition, genetic testing is available at DNA Labs UAE, which can confirm the presence of mutations in the MYO18B gene. The test is crucial for individuals who exhibit symptoms of Klippel-Feil Syndrome Type 4, as it can provide definitive confirmation of the diagnosis. This information can be invaluable for affected individuals and their families in terms of understanding the condition, its inheritance pattern, and making informed decisions about management and care.

The cost of the genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to detect mutations in the MYO18B gene. Given the complexity of the condition and the importance of accurate diagnosis, the test is a critical step for individuals presenting with symptoms consistent with Klippel-Feil Syndrome Type 4, as well as for their family members who may be at risk.

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MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test

At DNA Labs UAE, we offer the MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test at a cost of AED 4400.0. This test is designed to diagnose individuals with Klippel-Feil Syndrome Type 4, an autosomal dominant disorder characterized by the fusion of two or more cervical vertebrae in the neck.

Individuals with Klippel-Feil Syndrome Type 4 may experience limited neck movement, short stature, and abnormal curvature of the spine. Additionally, mutations in the MYO18B gene, which is associated with this syndrome, can also lead to myopathy, a group of disorders characterized by muscle weakness and dysfunction. Symptoms of myopathy include muscle wasting, decreased muscle tone, and difficulty with movement.

Facial dysmorphism, or abnormal facial features, may also be present in individuals with MYO18B gene mutations. These features can vary but may include a flat nasal bridge, a small jaw, or other facial abnormalities.

To confirm a diagnosis of Klippel-Feil Syndrome Type 4, autosomal dominant, with myopathy and facial dysmorphism, we offer a genetic test called Next-Generation Sequencing (NGS). NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes, including the MYO18B gene. This test can identify mutations in the MYO18B gene or other genes associated with similar conditions.

Before undergoing the MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test, it is important to provide a clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the syndrome.

Our test department, Genetics, is staffed by experienced professionals, including pediatricians who specialize in genetic testing. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks.

For a comprehensive evaluation and discussion of the genetic testing options available, we recommend consulting with a healthcare professional or genetic counselor. They can provide accurate diagnosis and guidance based on the results of the MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test.

Test Name MYO18B Gene Klippel-Feil syndrome type 4 autosomal dominant with myopathy and facial dysmorphism 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 MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic DNA Test gene MYO18B
Test Details

The MYO18B gene is associated with Klippel-Feil syndrome type 4, which is an autosomal dominant disorder characterized by the fusion of two or more cervical vertebrae in the neck. This condition can lead to a variety of symptoms, including limited neck movement, short stature, and abnormal curvature of the spine.

In addition to Klippel-Feil syndrome, mutations in the MYO18B gene have also been associated with myopathy, which is a group of disorders characterized by muscle weakness and dysfunction. These mutations can lead to muscle wasting, decreased muscle tone, and difficulty with movement.

Furthermore, individuals with MYO18B gene mutations may also exhibit facial dysmorphism, which refers to abnormal facial features. These features can vary widely but may include a flat nasal bridge, a small jaw, or other facial abnormalities.

To confirm a diagnosis of Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism, a genetic test called Next-Generation Sequencing (NGS) can be performed. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes. This test can identify mutations in the MYO18B gene or other genes associated with similar conditions.

It is important to consult with a healthcare professional or genetic counselor for a comprehensive evaluation and discussion of the genetic testing options available for an accurate diagnosis.

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