Symptoms of FREM2 Gene Fraser Syndrome Genetic Test
Fraser syndrome, a rare autosomal recessive disorder, is primarily characterized by cryptophthalmos, syndactyly, and abnormalities in the kidneys, among other clinical manifestations. The FREM2 gene plays a crucial role in the development of these symptoms. Understanding the symptoms is essential for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the FREM2 gene to identify carriers of the mutation and help in the diagnosis of Fraser syndrome.
Key Symptoms and Features of Fraser Syndrome
The clinical presentation of Fraser syndrome can vary significantly among affected individuals. However, some key symptoms and features are commonly observed:
- Cryptophthalmos: The partial or complete fusion of the eyelids, leading to a hidden or absent eye.
- Syndactyly: The fusion of two or more fingers or toes, affecting the mobility and functionality of the hands and feet.
- Renal Anomalies: Kidney malformations and dysfunctions are common, potentially leading to chronic kidney disease.
- Ear Abnormalities: Affected individuals may have malformed ears, leading to hearing impairments.
- Nasal Defects: Abnormalities in the nasal structure, including a widened nasal bridge or nasal clefts, are often present.
- Laryngeal and Tracheal Malformations: These can lead to breathing difficulties and increased susceptibility to respiratory infections.
- Genitourinary Abnormalities: Malformations of the genitalia and urinary system are common, affecting reproductive health and urinary function.
It is important to note that not all individuals with FREM2 gene mutations will exhibit all the above symptoms. The severity and combination of symptoms can vary widely.
Importance of Genetic Testing for Fraser Syndrome
Genetic testing for the FREM2 gene is a critical step in the diagnosis of Fraser syndrome. This test can identify mutations in the FREM2 gene that are responsible for the condition. Early diagnosis through genetic testing can facilitate timely intervention and management of the symptoms, improving the quality of life for affected individuals and their families.
DNA Labs UAE offers the FREM2 Gene Fraser Syndrome Genetic Test at a cost of 4400 AED. This test is a comprehensive tool for diagnosing Fraser syndrome, allowing for early and accurate identification of the condition.
For more information on the FREM2 Gene Fraser Syndrome Genetic Test and to schedule a testing appointment, please visit DNA Labs UAE.
Understanding the symptoms of Fraser syndrome and the importance of genetic testing is crucial for affected individuals and their families. The FREM2 Gene Fraser Syndrome Genetic Test provided by DNA Labs UAE is an invaluable resource for those seeking answers and guidance in managing this rare condition.
