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How is Floating-Harbor syndrome diagnosed?

See how Floating-Harbor syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Floating-Harbor syndrome

Floating-Harbor syndrome diagnosis

Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by a distinct set of physical features and developmental delays. Diagnosing FHS involves a comprehensive evaluation of an individual's medical history, physical examination, and genetic testing.



Medical History: The first step in diagnosing FHS is to gather a detailed medical history of the individual. This includes information about the individual's birth, growth patterns, developmental milestones, and any associated health issues. It is important to identify any characteristic features or symptoms that may be indicative of FHS.



Physical Examination: A thorough physical examination is conducted to assess the individual's physical features and identify any abnormalities that may be associated with FHS. The characteristic features of FHS include a triangular-shaped face, low-set ears, a broad and prominent nose, a wide mouth, and a short stature. Additionally, individuals with FHS may have skeletal abnormalities, such as short fingers and toes, as well as speech and language delays.



Genetic Testing: Genetic testing plays a crucial role in confirming the diagnosis of FHS. The most common genetic cause of FHS is a mutation in the SRCAP gene, which can be identified through genetic testing. There are different types of genetic tests that can be performed, including chromosomal microarray analysis (CMA) and targeted gene sequencing. CMA can detect large-scale genetic changes, such as deletions or duplications, while targeted gene sequencing specifically looks for mutations in the SRCAP gene.



Chromosomal Microarray Analysis (CMA): CMA is a high-resolution genetic test that examines the entire genome for any structural changes. It can detect deletions or duplications of genetic material, including those associated with FHS. CMA is typically performed using a blood sample, and the results can help identify any genetic abnormalities that may be contributing to the individual's symptoms.



Targeted Gene Sequencing: Targeted gene sequencing is a genetic test that focuses on analyzing specific genes associated with a particular condition. In the case of FHS, targeted gene sequencing is used to identify mutations in the SRCAP gene. This test involves sequencing the DNA of the individual to look for any alterations or mutations in the gene. Targeted gene sequencing can be performed using a blood sample or other tissue samples.



Confirmation of Diagnosis: Once genetic testing is completed, the results are analyzed by geneticists and genetic counselors who specialize in interpreting genetic data. If a mutation in the SRCAP gene is identified, it confirms the diagnosis of FHS. However, it is important to note that in some cases, genetic testing may not identify a mutation, especially if there are other genes involved in causing FHS that have not yet been discovered.



Additional Testing: In some cases, additional testing may be recommended to assess the individual's overall health and identify any associated medical conditions. This may include imaging studies, such as X-rays or bone scans, to evaluate skeletal abnormalities, or hearing and vision tests to assess any related impairments.



Genetic Counseling: Genetic counseling is an essential part of the diagnostic process for FHS. Genetic counselors provide information and support to individuals and families affected by genetic disorders. They help explain the genetic testing process, interpret the results, and discuss the implications of the diagnosis. Genetic counseling also involves discussing the inheritance pattern of FHS and the risk of recurrence in future pregnancies.



In conclusion, diagnosing Floating-Harbor syndrome involves a combination of medical history evaluation, physical examination, and genetic testing. The identification of characteristic physical features, along with genetic testing to detect mutations in the SRCAP gene, is crucial for confirming the diagnosis. Genetic counseling is an integral part of the diagnostic process, providing individuals and families with information and support throughout the evaluation and diagnosis of FHS.


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