Mosaic Variegated Aneuploidy (MVA) syndrome type 2, caused by mutations in the CEP57 gene, is a rare genetic disorder characterized by a high degree of chromosomal instability. This condition leads to a spectrum of clinical manifestations, making its early diagnosis crucial for management and care. DNA Labs UAE offers a comprehensive genetic test for the CEP57 gene to identify mutations associated with MVA syndrome type 2, with the test cost priced at 4400 AED.
Symptoms of CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2
The symptoms of Mosaic Variegated Aneuploidy Syndrome Type 2 can vary significantly among affected individuals, but some common manifestations include:
- Growth retardation, which may be evident prenatally or shortly after birth, leading to short stature.
- Microcephaly, a condition where the head circumference is smaller than expected for an individual’s age and sex.
- Developmental delay or intellectual disability, ranging from mild to severe.
- Congenital anomalies, which can affect various organs and systems, including the heart, kidneys, and skeletal system.
- Increased risk of developing cancer, particularly Wilms tumor, rhabdomyosarcoma, and leukemia, at an early age.
- Skin pigmentation anomalies, such as café-au-lait spots and areas of hypo- or hyperpigmentation, reflecting the underlying chromosomal instability.
It’s important to note that the presence and severity of these symptoms can vary widely among individuals with the syndrome. Some may have mild manifestations, while others may experience more severe complications.
Genetic Test for CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the CEP57 gene, which are responsible for MVA syndrome type 2. This test is crucial for confirming the diagnosis, especially in individuals who present with the aforementioned symptoms. Early diagnosis can facilitate timely intervention and management of the condition, potentially improving the quality of life and prognosis for affected individuals.
The test cost is 4400 AED, and it involves a simple blood draw. The sample is then analyzed using advanced genetic sequencing techniques to identify any mutations in the CEP57 gene. The results of this test can provide valuable information for families regarding future pregnancies and for individuals in terms of surveillance for associated health issues, particularly the increased risk of cancer.
For more information on the CEP57 gene Mosaic Variegated Aneuploidy Syndrome Type 2 genetic test and to schedule a testing appointment, please visit DNA Labs UAE.
Early detection and diagnosis are key to managing Mosaic Variegated Aneuploidy Syndrome Type 2. If you or a loved one is experiencing symptoms associated with this condition, consider reaching out to DNA Labs UAE for a consultation. With the right support and care, individuals with this syndrome can lead fulfilling lives.
