ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test
At DNA Labs UAE, we offer the ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test. This test helps in diagnosing the Helsmoortel-van der Aa Syndrome, a rare genetic disorder associated with mutations in the ADNP gene.
Test Components and Price
The ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test is priced at 4400.0 AED. The test requires a blood sample for analysis.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks.
Method and Test Type
The ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test utilizes NGS (Next-Generation Sequencing) technology. This advanced sequencing method allows for the analysis of multiple genes simultaneously. The test type is Dysmorphology, focusing on the study of abnormal physical features.
Doctor and Test Department
The ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test is conducted under the supervision of a Pediatrics doctor. The test falls under the Genetics department.
Pre Test Information
Prior to the ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by the syndrome. This helps in understanding the inheritance pattern and identifying potential carriers of the ADNP gene mutation.
Test Details
The ADNP gene, also known as activity-dependent neuroprotective protein, is responsible for brain development and function. Mutations in this gene are associated with Helsmoortel-van der Aa Syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, autism spectrum disorder, and distinctive facial features. Other symptoms may include seizures, sleep disturbances, gastrointestinal issues, and abnormal growth.
NGS genetic testing is used to identify mutations in the ADNP gene. This involves extracting DNA from a blood or saliva sample and sequencing it to detect any genetic variations or mutations. The obtained data is then compared to a reference genome to identify disease-causing mutations.
NGS genetic testing for ADNP gene mutations helps confirm a diagnosis of Helsmoortel-van der Aa Syndrome in individuals with clinical features consistent with the disorder. It can also be used for carrier testing in family members or for prenatal testing in families with a known ADNP gene mutation.
Genetic testing provides valuable information for individuals and families affected by Helsmoortel-van der Aa Syndrome. It helps in understanding the underlying cause of the disorder, accurate diagnosis, and potentially guiding treatment and management options. Additionally, it aids in genetic counseling and family planning.
| Test Name | ADNP Gene Helsmoortel-van der Aa syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| 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 ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic DNA Test gene ADNP |
| Test Details |
ADNP gene, also known as activity-dependent neuroprotective protein, is a gene that plays a crucial role in brain development and function. Mutations in the ADNP gene have been associated with a rare genetic disorder called Helsmoortel-van der Aa syndrome (also known as ADNP syndrome). Helsmoortel-van der Aa syndrome is characterized by developmental delay, intellectual disability, autism spectrum disorder, and distinctive facial features. Other common features may include seizures, sleep disturbances, gastrointestinal issues, and abnormal growth. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of Helsmoortel-van der Aa syndrome, NGS genetic testing can be used to identify mutations in the ADNP gene. NGS genetic testing involves extracting DNA from a patient’s blood or saliva sample and then sequencing the DNA to identify any genetic variations or mutations. The data obtained from NGS testing is analyzed and compared to a reference genome to identify any potential disease-causing mutations. NGS genetic testing for ADNP gene mutations can help confirm a diagnosis of Helsmoortel-van der Aa syndrome in individuals with clinical features consistent with the disorder. It can also be used for carrier testing in family members of affected individuals or for prenatal testing in families with a known ADNP gene mutation. Genetic testing can provide valuable information for individuals and families affected by Helsmoortel-van der Aa syndrome, including a better understanding of the underlying cause of the disorder, accurate diagnosis, and potentially guiding treatment and management options. It can also provide important information for genetic counseling and family planning. |
