CCDC8 Gene Three M syndrome type 3 Genetic Test
At DNA Labs UAE, we offer the CCDC8 Gene Three M syndrome type 3 Genetic Test for individuals suspected of having this rare genetic disorder. This test can provide a diagnosis, guide medical management, and offer information for genetic counseling.
Test Details
The CCDC8 gene is responsible for encoding a protein called coiled-coil domain-containing protein 8. Mutations in this gene have been associated with Three M syndrome type 3, a rare genetic disorder characterized by short stature, facial dysmorphism, and skeletal abnormalities.
The CCDC8 Gene Three M syndrome type 3 Genetic Test is a Next-Generation Sequencing (NGS) genetic test. NGS technology allows us to analyze multiple genes simultaneously, providing a comprehensive evaluation of genetic mutations. This test specifically focuses on identifying mutations in the CCDC8 gene.
Test Components and Price
The CCDC8 Gene Three M syndrome type 3 Genetic Test costs AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The report will be delivered within 3 to 4 weeks.
Referring Doctor and Test Department
This test is conducted under the supervision of a pediatrician in the Genetics department.
Pre Test Information
Prior to the test, it is essential to provide the clinical history of the patient who is undergoing the CCDC8 Gene Three M syndrome type 3 NGS Genetic DNA Test. A genetic counseling session will be conducted to draw a pedigree chart of family members affected by CCDC8 Gene Three M syndrome type 3.
Importance of Genetic Testing
Genetic testing can confirm a clinical diagnosis, guide medical management, and provide valuable information for genetic counseling. It can also be used for carrier testing in family members of affected individuals.
However, it is important to note that genetic testing is not always necessary for diagnosis. A clinical evaluation by a healthcare professional is typically the first step in diagnosing Three M syndrome type 3.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our CCDC8 Gene Three M syndrome type 3 Genetic Test can help individuals and their families gain a better understanding of this rare genetic disorder.
| Test Name | CCDC8 Gene Three M syndrome type 3 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 CCDC8 Gene Three M syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CCDC8 Gene Three M syndrome type 3 NGS Genetic DNA Test gene CCDC8 |
| Test Details |
The CCDC8 gene is responsible for encoding a protein called coiled-coil domain-containing protein 8. Mutations in this gene have been associated with a rare genetic disorder called Three M syndrome type 3. Three M syndrome is characterized by short stature, facial dysmorphism (unusual facial features), and skeletal abnormalities. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously. It uses high-throughput sequencing technologies to rapidly sequence large amounts of DNA. In the context of Three M syndrome type 3, NGS genetic testing can be used to identify mutations in the CCDC8 gene, providing a diagnosis for individuals suspected of having this condition. Genetic testing can help confirm a clinical diagnosis, guide medical management, and provide information for genetic counseling. It can also be used for carrier testing in family members of affected individuals. However, it is important to note that genetic testing is not always necessary for diagnosis, and a clinical evaluation by a healthcare professional is usually the first step in diagnosing Three M syndrome type 3. |
