At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families gain crucial insights into their genetic makeup, enabling them to make informed health and lifestyle decisions. Among our specialized offerings is the MASP1 Gene 3MC Syndrome Type 1 Genetic Test, a critical tool for diagnosing a rare genetic disorder that can impact multiple organ systems. This condition, known as 3MC syndrome, encompasses a range of symptoms and characteristics that can vary significantly from one individual to another.
Understanding 3MC Syndrome
3MC syndrome represents a group of autosomal recessive disorders characterized by various developmental anomalies. The acronym “3MC” stands for the three syndromes it was initially thought to encompass: Mingarelli, Malpuech, Michels, and Carnevale syndromes. These disorders share several clinical features, including craniofacial anomalies, cognitive impairments, and urogenital abnormalities. The MASP1 gene, when mutated, has been identified as a primary cause of 3MC Syndrome Type 1, making genetic testing a valuable tool for diagnosis.
Symptoms of 3MC Syndrome
The symptoms of 3MC Syndrome can be diverse and affect multiple areas of the body. Key features of the syndrome include:
- Craniofacial anomalies, such as wide-set eyes (hypertelorism), a broad nasal bridge, and cleft lip or palate.
- Intellectual disability or developmental delays.
- Umbilical hernia or diastasis recti, which is a separation of the abdominal muscles.
- Genitourinary anomalies, including cryptorchidism in males (undescended testes) and urogenital malformations in females.
- Skeletal abnormalities, like clinodactyly (curved fingers) or foot deformities.
- Eye defects, including blepharophimosis (a reduction in the size of the eye opening).
- Heart defects in some cases.
Given the variability in symptom presentation, genetic testing for the MASP1 gene mutations is crucial for a definitive diagnosis of 3MC Syndrome Type 1.
The Importance of Genetic Testing
Genetic testing for the MASP1 Gene 3MC Syndrome Type 1 involves analyzing the DNA to look for mutations in the MASP1 gene that are known to cause the disorder. This test is not only important for confirming a diagnosis but also for guiding treatment decisions, understanding the risk of recurrence in families, and providing information crucial for family planning.
Test Cost
At DNA Labs UAE, we understand the importance of accessible genetic testing. The cost of the MASP1 Gene 3MC Syndrome Type 1 Genetic Test is 4400 AED. This includes a comprehensive analysis and a detailed report of the findings, which will be discussed with you by our team of genetic specialists.
How to Proceed
If you or a family member are showing symptoms of 3MC Syndrome, or if there’s a known history of the syndrome in your family, we encourage you to consider genetic testing. For more information about the MASP1 Gene 3MC Syndrome Type 1 Genetic Test and to schedule an appointment, please visit our website at DNA Labs UAE. Our team is here to support you through every step of the testing process, from initial consultation to post-test counseling.
Understanding your genetic health is crucial, and at DNA Labs UAE, we are committed to providing you with accurate, confidential, and comprehensive genetic testing services. Our state-of-the-art facilities and experienced genetic counselors are here to ensure that you receive the highest quality care and support throughout your journey.
