NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test
At DNA Labs UAE, we offer the NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test. This test is designed to analyze the NRXN1 gene, which is associated with Pitt-Hopkins syndrome. Pitt-Hopkins syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, distinctive facial features, and other physical abnormalities.
Test Components and Price
The NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery
After the sample is received, the report will be delivered within 3 to 4 weeks.
Method and Test Type
The NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test utilizes NGS (Next-Generation Sequencing) technology. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or even the entire genome. This test falls under the category of Dysmorphology.
Doctor and Test Department
The NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test is conducted by our experienced team of pediatricians in the Genetics department.
Pre Test Information
Before undergoing the NRXN1 Gene Pitt-Hopkins 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 NRXN1 Gene Pitt-Hopkins Syndrome. This will help in understanding the inheritance pattern of the condition.
Test Details
NGS genetic testing allows for the analysis of the NRXN1 gene to identify any mutations or variations that may be present. This information is crucial for confirming a diagnosis of Pitt-Hopkins syndrome and providing valuable insights for genetic counseling, treatment planning, and understanding the inheritance pattern of the condition.
NGS testing can detect various types of mutations, including point mutations, insertions, deletions, or duplications in the NRXN1 gene. By specifically targeting and sequencing the NRXN1 gene, NGS testing can provide comprehensive information about any genetic changes that may be causing Pitt-Hopkins syndrome.
It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories or genetic testing facilities. The decision to undergo genetic testing should be made in consultation with a healthcare professional or genetic counselor, who can provide guidance on the benefits, limitations, and potential implications of the test.
| Test Name | NRXN1 Gene Pitt-Hopkins 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 NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic DNA Test gene NRXN1 |
| Test Details |
The NRXN1 gene is associated with Pitt-Hopkins syndrome, a rare genetic disorder characterized by intellectual disability, developmental delay, distinctive facial features, and other physical abnormalities. NGS (Next-Generation Sequencing) genetic testing can be used to analyze the NRXN1 gene for any mutations or variations that may be present. NGS genetic testing is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of Pitt-Hopkins syndrome, NGS can specifically target and sequence the NRXN1 gene to identify any potential genetic changes that may be causing the disorder. By analyzing the NRXN1 gene, NGS testing can identify various types of mutations, such as point mutations, insertions, deletions, or duplications. These mutations can help confirm a diagnosis of Pitt-Hopkins syndrome and provide valuable information for genetic counseling, treatment planning, and understanding the inheritance pattern of the condition. It is important to note that NGS genetic testing may not be available in all healthcare settings and may require specialized laboratories or genetic testing facilities. Additionally, the decision to undergo genetic testing should be made in consultation with a healthcare professional or genetic counselor, who can provide guidance on the benefits, limitations, and potential implications of the test. |
