P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test
At DNA Labs UAE, we offer the P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test. This test helps diagnose Cole-Carpenter syndrome type 1, a rare genetic disorder characterized by craniosynostosis, ocular proptosis, and other skeletal abnormalities.
Test Details
The P4HB gene is associated with Cole-Carpenter syndrome type 1. Our NGS (Next-Generation Sequencing) genetic testing method allows us to analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. This test specifically focuses on the P4HB gene and can identify any mutations or variations that may be responsible for the disorder.
Components and Price
The P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test is priced at 4400.0 AED. The test requires a blood or extracted DNA sample, or alternatively, one drop of blood on an FTA card.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks.
Test Type and Doctor
This genetic test falls under the categories of Osteology, Dermatology, and Immunology Disorders. It is recommended to consult with a dermatologist for this test. Our Genetics department handles the testing process.
Pre Test Information
Before undergoing the P4HB Gene Cole-Carpenter Syndrome Type 1 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 the P4HB gene. This information will help in the accurate interpretation of the test results.
Implications and Family Risk
The results of the NGS genetic test can confirm a diagnosis of Cole-Carpenter syndrome type 1 and provide valuable information for medical management and genetic counseling. Furthermore, the test results may have implications for family members who may be at risk of inheriting the condition.
Please note that this genetic test is typically ordered by a healthcare professional with expertise in genetics. They will assess the individual’s medical history, symptoms, and other factors to determine if genetic testing is appropriate and provide guidance on the implications of the test results.
| Test Name | P4HB Gene Cole-Carpenter syndrome type 1 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 | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic DNA Test gene P4HB |
| Test Details |
The P4HB gene is associated with Cole-Carpenter syndrome type 1, a rare genetic disorder characterized by craniosynostosis (premature fusion of the skull bones), ocular proptosis (bulging eyes), and other skeletal abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. In the context of Cole-Carpenter syndrome type 1, NGS genetic testing can identify mutations or variations in the P4HB gene that may be responsible for the disorder. The NGS genetic test for Cole-Carpenter syndrome type 1 typically involves obtaining a blood or saliva sample from the individual, which is then sent to a specialized laboratory for analysis. The laboratory uses advanced sequencing techniques to examine the P4HB gene and identify any genetic changes that may be present. The results of the NGS genetic test can help confirm a diagnosis of Cole-Carpenter syndrome type 1 and provide valuable information for medical management and genetic counseling. Additionally, the test results may also have implications for family members who may be at risk of inheriting the condition. It is important to note that NGS genetic testing for Cole-Carpenter syndrome type 1 is typically ordered by a healthcare professional with expertise in genetics. They will assess the individual’s medical history, symptoms, and other factors to determine if genetic testing is appropriate and provide guidance on the implications of the test results. |
