CEP290 Gene Bardet-Biedl syndrome type 14 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: Hepatology Nephrology Endocrinology Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test gene CEP290
Test Details
The CEP290 gene is associated with Bardet-Biedl syndrome (BBS), which is a rare genetic disorder that affects multiple body systems. BBS is characterized by vision problems, obesity, kidney abnormalities, extra fingers or toes, and intellectual disability.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for mutations or variations. In the context of Bardet-Biedl syndrome, NGS genetic testing can be used to identify mutations or variations in the CEP290 gene, which can help confirm a diagnosis of BBS.
The test involves obtaining a sample of the patient’s DNA, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the CEP290 gene.
The results of the test can help healthcare professionals determine the cause of the patient’s symptoms and provide appropriate treatment and management options.
It is important to note that genetic testing for Bardet-Biedl syndrome and other genetic disorders should be done under the guidance of a healthcare professional or genetic counselor. They can provide information and support regarding the testing process, interpretation of results, and implications for the patient and their family.
| Test Name | CEP290 Gene Bardet-Biedl syndrome type 14 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test gene CEP290 |
| Test Details |
The CEP290 gene is associated with Bardet-Biedl syndrome (BBS), which is a rare genetic disorder that affects multiple body systems. BBS is characterized by vision problems, obesity, kidney abnormalities, extra fingers or toes, and intellectual disability. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for mutations or variations. In the context of Bardet-Biedl syndrome, NGS genetic testing can be used to identify mutations or variations in the CEP290 gene, which can help confirm a diagnosis of BBS. The test involves obtaining a sample of the patient’s DNA, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the CEP290 gene. The results of the test can help healthcare professionals determine the cause of the patient’s symptoms and provide appropriate treatment and management options. It is important to note that genetic testing for Bardet-Biedl syndrome and other genetic disorders should be done under the guidance of a healthcare professional or genetic counselor. They can provide information and support regarding the testing process, interpretation of results, and implications for the patient and their family. |
