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FAT1 Gene Facioscapulohumeral dystrophy-like phenotype FAT1 related Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The FAT1 gene, associated with the development of a Facioscapulohumeral dystrophy-like phenotype, is the focus of specialized genetic testing offered by DNA Labs UAE. This test aims to identify mutations in the FAT1 gene that could lead to symptoms and clinical manifestations resembling Facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder characterized by progressive muscle weakness and atrophy, primarily affecting the face, shoulder blades, and upper arms.

DNA Labs UAE provides this comprehensive genetic analysis at a cost of 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to detect any genetic abnormalities in the FAT1 gene. This precise genetic testing is crucial for individuals showing symptoms akin to FSHD, as it helps in confirming a diagnosis, understanding the risk of passing the condition to offspring, and guiding treatment and management decisions. By identifying specific genetic mutations, healthcare providers can offer more personalized care, potentially improving the quality of life for those affected by this condition.

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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.