EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome Genetic Test
Are you concerned about EXT2 gene seizures, scoliosis, and macrocephaly syndrome? DNA Labs UAE offers a comprehensive genetic test to diagnose this rare disorder. Read on to learn more about the symptoms, diagnosis process, and cost of this test.
Test Details
EXT2 gene seizures, scoliosis, and macrocephaly syndrome is a rare genetic disorder caused by mutations in the EXT2 gene. The EXT2 gene is responsible for producing an enzyme involved in the synthesis of heparan sulfate, a sugar molecule crucial for the development and maintenance of various tissues in the body.
Individuals with EXT2 gene mutations may experience a range of symptoms, including:
- Seizures
- Scoliosis (abnormal curvature of the spine)
- Macrocephaly (abnormally large head size)
- Intellectual disability
- Developmental delay
- Abnormalities of the bones and joints
To diagnose EXT2 gene seizures, scoliosis, and macrocephaly syndrome, we offer a Next-Generation Sequencing (NGS) genetic test. NGS technology allows us to analyze multiple genes simultaneously, making it a valuable tool for diagnosing rare genetic disorders like this one. This test involves sequencing the entire coding region of the EXT2 gene to identify any changes or variations that may be causing the disorder.
Test Information
Test Name: EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information
Prior to the EXT2 gene seizures, scoliosis, and macrocephaly syndrome NGS genetic DNA test, it is important to provide the patient’s clinical history. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by this disorder.
Benefits of Genetic Testing
Genetic testing can provide numerous benefits for individuals and families affected by EXT2 gene seizures, scoliosis, and macrocephaly syndrome. These include:
- Confirmation of diagnosis
- Information about the inheritance pattern of the disorder
- Guidance for treatment and management options
- Assistance with family planning
- Genetic counseling for affected individuals and their families
Don’t wait any longer to get the answers you need. Contact DNA Labs UAE today to schedule your EXT2 gene seizures, scoliosis, and macrocephaly syndrome Genetic Test.
| Test Name | EXT2 Gene Seizures scoliosis and macrocephaly 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 EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic DNA Test gene EXT2 |
| Test Details |
EXT2 gene seizures, scoliosis, and macrocephaly syndrome is a rare genetic disorder that is caused by mutations in the EXT2 gene. The EXT2 gene provides instructions for producing an enzyme that is involved in the synthesis of heparan sulfate, a complex sugar molecule that is important for the development and maintenance of many tissues in the body. Individuals with EXT2 gene mutations may experience a range of symptoms, including seizures, scoliosis (abnormal curvature of the spine), and macrocephaly (an abnormally large head size). Other features that may be present include intellectual disability, developmental delay, and abnormalities of the bones and joints. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the EXT2 gene. This type of testing involves sequencing the entire coding region of the gene to look for any changes or variations that may be causing the disorder. NGS is a powerful tool that can analyze multiple genes simultaneously, making it a valuable tool for diagnosing rare genetic disorders like EXT2 gene seizures, scoliosis, and macrocephaly syndrome. Genetic testing can help confirm a diagnosis, provide information about the inheritance pattern of the disorder, and guide treatment and management options. It can also be helpful for family planning and providing genetic counseling to affected individuals and their families. |
