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PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test

4,400 د.إ

-21%

The PHF6 gene Borjeson-Forssman-Lehmann Syndrome (BFLS) genetic test is a specialized diagnostic procedure available at DNA Labs UAE. BFLS is a rare X-linked intellectual disability syndrome characterized by various physical and developmental anomalies. This condition is primarily associated with mutations in the PHF6 gene. The genetic test is designed to detect these mutations, providing crucial information for accurate diagnosis, management, and genetic counseling for affected families.

Priced at 4400 AED, the test involves analyzing the patient’s DNA to identify any abnormalities in the PHF6 gene that could indicate the presence of Borjeson-Forssman-Lehmann Syndrome. This test is vital for families with a history of the condition or when symptoms suggestive of BFLS are observed in individuals. By confirming the diagnosis, healthcare providers can offer targeted interventions and support, improving the quality of life for those affected by the syndrome.

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PHF6 Gene Borjeson-Forssman-Lehmann syndrome Genetic Test

Components

  • Price: 4400.0 AED

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

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 PHF6 Gene Borjeson-Forssman-Lehmann syndrome NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with PHF6 Gene Borjeson-Forssman-Lehmann syndrome

Test Details

The PHF6 gene is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), which is a rare genetic disorder that affects multiple parts of the body. BFLS is characterized by intellectual disability, developmental delay, short stature, obesity, and distinctive facial features. The condition is caused by mutations in the PHF6 gene, which provides instructions for making a protein that plays a role in the development and function of nerve cells.

NGS (next-generation sequencing) genetic testing is a type of genetic test that can detect mutations in multiple genes at once. This type of testing can be useful for diagnosing rare genetic disorders like BFLS, as it allows for the simultaneous analysis of many genes that may be involved in the condition. NGS testing can also be used to identify carriers of genetic mutations, which can be important for family planning and genetic counseling.

Test Name PHF6 Gene Borjeson-Forssman-Lehmann syndrome 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 PHF6 Gene Borjeson-Forssman-Lehmann syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHF6 Gene Borjeson-Forssman-Lehmann syndrome
Test Details

The PHF6 gene is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), which is a rare genetic disorder that affects multiple parts of the body. BFLS is characterized by intellectual disability, developmental delay, short stature, obesity, and distinctive facial features. The condition is caused by mutations in the PHF6 gene, which provides instructions for making a protein that plays a role in the development and function of nerve cells.

NGS (next-generation sequencing) genetic testing is a type of genetic test that can detect mutations in multiple genes at once. This type of testing can be useful for diagnosing rare genetic disorders like BFLS, as it allows for the simultaneous analysis of many genes that may be involved in the condition. NGS testing can also be used to identify carriers of genetic mutations, which can be important for family planning and genetic counseling.