TBC1D24 Gene DOOR 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 TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test gene TBC1D24.
Test Details
The TBC1D24 gene is associated with a rare genetic disorder called DOOR syndrome. DOOR syndrome stands for Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation syndrome. It is a neurodevelopmental disorder characterized by a combination of hearing loss, abnormal nails, skeletal abnormalities, and intellectual disability.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It allows for the identification of genetic variations, including mutations, in specific genes such as TBC1D24. NGS testing can help diagnose DOOR syndrome by identifying mutations or variations in the TBC1D24 gene that are known to be associated with the disorder.
Genetic testing for DOOR syndrome can be useful in confirming a diagnosis, guiding medical management, and providing information about the inheritance pattern of the condition. It can also help in genetic counseling and family planning for individuals and families affected by the syndrome.
It is important to note that genetic testing for DOOR syndrome should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
| Test Name | TBC1D24 Gene DOOR 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 TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test gene TBC1D24 |
| Test Details |
The TBC1D24 gene is associated with a rare genetic disorder called DOOR syndrome. DOOR syndrome stands for Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation syndrome. It is a neurodevelopmental disorder characterized by a combination of hearing loss, abnormal nails, skeletal abnormalities, and intellectual disability. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It allows for the identification of genetic variations, including mutations, in specific genes such as TBC1D24. NGS testing can help diagnose DOOR syndrome by identifying mutations or variations in the TBC1D24 gene that are known to be associated with the disorder. Genetic testing for DOOR syndrome can be useful in confirming a diagnosis, guiding medical management, and providing information about the inheritance pattern of the condition. It can also help in genetic counseling and family planning for individuals and families affected by the syndrome. It is important to note that genetic testing for DOOR syndrome should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |
