RBBP8 Gene Jawad Syndrome Genetic Test
Cost: AED 4400.0
Test Components:
- RBBP8 Gene Jawad syndrome Genetic Test
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 RBBP8 Gene Jawad syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RBBP8 Gene Jawad syndrome NGS Genetic DNA Test gene RBBP8
Test Details:
The RBBP8 gene, also known as Retinoblastoma Binding Protein 8, is involved in various cellular processes, including DNA repair and cell cycle regulation. Mutations in this gene have been associated with a rare genetic disorder called Jawad syndrome. Jawad syndrome is a neurodevelopmental disorder characterized by intellectual disability, speech and language delay, autism spectrum disorder, and distinctive facial features. It is a very rare condition, with only a few cases reported in the medical literature.
NGS (Next-Generation Sequencing) genetic testing is a high-throughput sequencing technology that allows the simultaneous analysis of multiple genes or even the entire genome. It is commonly used in clinical genetics to identify disease-causing mutations in individuals suspected of having a genetic disorder. In the case of Jawad syndrome, an NGS genetic test can be used to analyze the RBBP8 gene for the presence of mutations. This test can help confirm a diagnosis of Jawad syndrome in individuals with clinical features suggestive of the condition and can also be used for carrier testing in families with a known history of the disorder.
It is important to note that NGS genetic testing may not always detect all types of mutations, and the interpretation of the test results requires expertise in clinical genetics. Therefore, it is recommended to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and implications of genetic testing for Jawad syndrome.
| Test Name | RBBP8 Gene Jawad 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 RBBP8 Gene Jawad syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RBBP8 Gene Jawad syndrome NGS Genetic DNA Test gene RBBP8 |
| Test Details |
The RBBP8 gene, also known as Retinoblastoma Binding Protein 8, is involved in various cellular processes, including DNA repair and cell cycle regulation. Mutations in this gene have been associated with a rare genetic disorder called Jawad syndrome. Jawad syndrome is a neurodevelopmental disorder characterized by intellectual disability, speech and language delay, autism spectrum disorder, and distinctive facial features. It is a very rare condition, with only a few cases reported in the medical literature. NGS (Next-Generation Sequencing) genetic testing is a high-throughput sequencing technology that allows the simultaneous analysis of multiple genes or even the entire genome. It is commonly used in clinical genetics to identify disease-causing mutations in individuals suspected of having a genetic disorder. In the case of Jawad syndrome, an NGS genetic test can be used to analyze the RBBP8 gene for the presence of mutations. This test can help confirm a diagnosis of Jawad syndrome in individuals with clinical features suggestive of the condition and can also be used for carrier testing in families with a known history of the disorder. It is important to note that NGS genetic testing may not always detect all types of mutations, and the interpretation of the test results requires expertise in clinical genetics. Therefore, it is recommended to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and implications of genetic testing for Jawad syndrome. |
