DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly Genetic Test
Are you or a family member suspected to have DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly? DNA Labs UAE offers a genetic test to help diagnose this condition.
Test Details
The DYNC2H1 gene is associated with a genetic disorder called short-rib thoracic dysplasia type 3 (SRTD3) with or without polydactyly. SRTD3 is a rare skeletal dysplasia characterized by short ribs, a narrow thorax, and polydactyly (extra fingers or toes).
Our genetic test uses NGS (Next-Generation Sequencing) technology to analyze multiple genes simultaneously. By focusing on the DYNC2H1 gene, we can identify mutations or variations that are indicative of SRTD3. This can help confirm a diagnosis and guide appropriate management and treatment options.
Test Components and Price
The cost of the DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly Genetic Test is AED 4400.0.
- Components: DYNC2H1 gene analysis
- 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
Prior to the genetic test, it is important to provide the clinical history of the patient who will undergo the DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by this condition.
Please note that genetic testing should always be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
Test Name | DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly 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 DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test gene DYNC2H1 |
Test Details |
The DYNC2H1 gene is associated with a genetic disorder called short-rib thoracic dysplasia type 3 (SRTD3) with or without polydactyly. SRTD3 is a rare skeletal dysplasia characterized by short ribs, a narrow thorax, and polydactyly (extra fingers or toes). NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of SRTD3, NGS genetic testing can identify mutations or variations in the DYNC2H1 gene, which can help in confirming a diagnosis of SRTD3. Genetic testing for SRTD3 can be beneficial for individuals with suspected or confirmed cases of the condition, as it can provide a definitive diagnosis and help in determining the appropriate management and treatment options. It can also be useful for family members who may be at risk of inheriting the condition, as genetic testing can provide information about their carrier status or risk of having affected children. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can help interpret the results and provide appropriate counseling and support. |