KAT6B Gene Genitopatellar Syndrome Genetic Test
At DNA Labs UAE, we offer the KAT6B Gene Genitopatellar Syndrome Genetic Test to provide important genetic information for individuals with symptoms suggestive of the disorder or family members of individuals with a known KAT6B gene mutation.
Test Details
The KAT6B gene is responsible for making a protein involved in the regulation of gene expression. Mutations in this gene can cause Genitopatellar Syndrome, a rare genetic disorder characterized by physical and developmental abnormalities.
Some symptoms of Genitopatellar Syndrome include:
- Intellectual disability
- Delayed speech and motor development
- Skeletal abnormalities
- Abnormalities of the genitals and urinary tract
- Distinctive facial features
Our KAT6B Gene Genitopatellar Syndrome Genetic Test utilizes NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously. This advanced sequencing technology allows us to identify mutations in the KAT6B gene that may be responsible for the disorder.
Test Components
Our KAT6B Gene Genitopatellar Syndrome Genetic Test includes:
- Test Name: KAT6B Gene Genitopatellar Syndrome Genetic Test
- 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: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre Test Information
Prior to undergoing the KAT6B Gene Genitopatellar Syndrome 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 disorder.
During the genetic counseling session, our healthcare professionals or genetic counselors will gather information about the family’s medical history and assess the likelihood of a KAT6B gene mutation.
Why Choose Genetic Testing?
Genetic testing for Genitopatellar Syndrome can provide several benefits, including:
- Confirmation of diagnosis
- Information about the specific genetic changes involved
- Assistance with medical management and treatment decisions
- Guidance for family planning
It is crucial to note that genetic testing for Genitopatellar Syndrome should always be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the process.
At DNA Labs UAE, we are dedicated to providing accurate and reliable genetic testing services. Contact us today to learn more about our KAT6B Gene Genitopatellar Syndrome Genetic Test and how it can help you and your family.
| Test Name | KAT6B Gene Genitopatellar 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for KAT6B Gene Genitopatellar syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KAT6B Gene Genitopatellar syndrome NGS Genetic DNA Test gene KAT6B |
| Test Details |
The KAT6B gene is a gene that provides instructions for making a protein involved in the regulation of gene expression. Mutations in the KAT6B gene can cause a rare genetic disorder known as Genitopatellar syndrome. Genitopatellar syndrome is characterized by a range of physical and developmental abnormalities. These may include intellectual disability, delayed speech and motor development, skeletal abnormalities such as joint and bone malformations, abnormalities of the genitals and urinary tract, and distinctive facial features. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of Genitopatellar syndrome, NGS genetic testing can be used to identify mutations in the KAT6B gene that may be responsible for the disorder. This testing can help confirm a diagnosis and provide information about the specific genetic changes involved. NGS genetic testing is typically performed using a small blood or saliva sample. The DNA from the sample is extracted and sequenced, and the resulting data is analyzed to identify any mutations or variations in the KAT6B gene. Genetic testing for Genitopatellar syndrome can be helpful for individuals who have symptoms suggestive of the disorder or for family members of individuals with a known KAT6B gene mutation. It can provide important information about the cause of the condition, assist with medical management and treatment decisions, and help with family planning. It is important to note that genetic testing for Genitopatellar syndrome should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support. |
