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. |
