FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test
At DNA Labs UAE, we offer the FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test. This test is designed to diagnose individuals with a FSHD-like phenotype caused by mutations in the FAT1 gene.
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery
The report for the FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test will be delivered within 3 to 4 weeks.
Method
The test utilizes NGS (next-generation sequencing) technology to analyze the genetic material and identify mutations in the FAT1 gene.
Test Type
The FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test falls under the category of Neurological Disorders.
Doctor
This test is recommended by Neurologists.
Test Department
The test is conducted in our Genetics department.
Pre Test Information
Prior to undergoing the FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the condition.
Test Details
Facioscapulohumeral dystrophy (FSHD) is a genetic disorder that primarily affects the muscles in the face, shoulders, and upper arms. While most cases are caused by mutations in the D4Z4 repeat region on chromosome 4, there is a rare subtype of FSHD that is caused by mutations in the FAT1 gene.
The FAT1 gene plays a crucial role in cell adhesion and signaling pathways. Mutations in this gene can disrupt these processes, leading to muscle weakness and wasting similar to FSHD.
NGS genetic testing is a powerful tool that can analyze multiple genes simultaneously. It is particularly useful in diagnosing rare genetic disorders such as FSHD-like phenotypes caused by FAT1 gene mutations.
If a mutation is identified, genetic counseling can provide individuals and families with a better understanding of the implications of the diagnosis. This can help in making informed decisions about medical management and family planning.
Test Name | FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related |
Test Details | Facioscapulohumeral dystrophy (FSHD) is a genetic disorder that affects the muscles in the face, shoulders, and upper arms. It is caused by mutations in the D4Z4 repeat region on chromosome 4. However, there is a rare subtype of FSHD that is caused by mutations in the FAT1 gene. The FAT1 gene provides instructions for making a protein that is involved in cell adhesion and signaling pathways. Mutations in this gene can disrupt these processes, leading to muscle weakness and wasting similar to FSHD. NGS (next-generation sequencing) genetic testing can identify mutations in the FAT1 gene that may be responsible for a FSHD-like phenotype. This type of testing can analyze multiple genes simultaneously, making it a useful tool for diagnosing rare genetic disorders. If a mutation is identified, genetic counseling can help individuals and families understand the implications of the diagnosis and make informed decisions about medical management and family planning. |