Symptoms and Testing information for MKKS Gene McKusick-Kaufman Syndrome Genetic Test

Symptoms and Testing information for MKKS Gene McKusick-Kaufman Syndrome Genetic Test

Symptoms of MKKS Gene McKusick-Kaufman Syndrome Genetic Test

MKKS Gene McKusick-Kaufman Syndrome is a rare genetic disorder that affects multiple organ systems in the body, including the limbs, heart, and the reproductive system. Understanding the symptoms of this syndrome is crucial for early diagnosis and management. The genetic test for MKKS Gene McKusick-Kaufman Syndrome, offered by DNA Labs UAE for 4400 AED, is a comprehensive approach to identifying the presence of this condition, allowing for timely intervention and support for affected individuals and their families.

Understanding McKusick-Kaufman Syndrome

McKusick-Kaufman Syndrome (MKKS) is a condition inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The syndrome is characterized by a combination of congenital anomalies that can vary significantly in presence and severity among affected individuals.

Key Symptoms of McKusick-Kaufman Syndrome

The symptoms of McKusick-Kaufman Syndrome can be diverse and affect various parts of the body. Some of the key symptoms include:

  • Hydrometrocolpos: This is a condition where the vagina and uterus are abnormally distended due to the accumulation of secretions and menstrual blood. It is often detected in infancy or early childhood.
  • Postaxial Polydactyly: This refers to the presence of an extra finger or toe on the side of the hands or feet farthest from the body. It is one of the more easily recognizable features of the syndrome.
  • Congenital Heart Defects: Some individuals with McKusick-Kaufman Syndrome may have heart defects present at birth, which can vary in type and severity.
  • Genitourinary Anomalies: Affected males may have abnormalities affecting the kidneys, ureters, and genitals, including undescended testes or abnormalities of the penis. Females may have abnormalities of the reproductive system beyond hydrometrocolpos, such as a bicornuate uterus or vaginal septum.

Importance of Genetic Testing for McKusick-Kaufman Syndrome

Genetic testing plays a pivotal role in the diagnosis of McKusick-Kaufman Syndrome. The MKKS Gene McKusick-Kaufman Syndrome Genetic Test is specifically designed to identify mutations in the MKKS gene that are responsible for the condition. Early diagnosis through genetic testing can facilitate timely medical and surgical interventions, improve the quality of life, and assist in family planning decisions for affected families.

Cost and Accessibility of the Test

The MKKS Gene McKusick-Kaufman Syndrome Genetic Test is available at DNA Labs UAE for a cost of 4400 AED. This test is a valuable resource for families seeking answers about this rare genetic disorder. For more information on the test and how to access it, visit DNA Labs UAE.

Conclusion

McKusick-Kaufman Syndrome is a complex condition that requires a comprehensive approach for diagnosis and management. The symptoms of this syndrome can significantly impact the quality of life of affected individuals and their families. Genetic testing for the MKKS gene offers a pathway to understanding and managing this condition. With the test available at DNA Labs UAE, families have access to crucial information that can aid in the early detection and treatment of McKusick-Kaufman Syndrome.

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