CREBBP Gene Rubinstein-Taybi syndrome Genetic Test
At DNA Labs UAE, we offer the CREBBP Gene Rubinstein-Taybi syndrome Genetic Test for individuals who suspect they may have Rubinstein-Taybi syndrome (RTS). This rare genetic disorder is characterized by intellectual disability, distinctive facial features, and broad thumbs and toes.
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
Prior to undergoing the CREBBP Gene Rubinstein-Taybi syndrome 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 CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test gene CREBBP.
Test Details
The CREBBP gene is associated with Rubinstein-Taybi syndrome (RTS). Our genetic test utilizes Next-generation sequencing (NGS) technology to analyze multiple genes simultaneously. In the case of RTS, NGS is used to sequence the CREBBP gene and identify any variations or mutations present.
To perform the test, a DNA sample is obtained from the individual through a blood or saliva sample. The DNA is then extracted and prepared for sequencing. NGS technology is used to sequence the entire coding region of the CREBBP gene, including known regulatory regions.
The sequenced data is analyzed to identify any variations or mutations in the CREBBP gene. These variations may include single nucleotide variants (SNVs), insertions, deletions, or larger structural variants. The identified variations are compared to a reference sequence to determine if they are pathogenic or likely to cause RTS.
The results of the NGS genetic test for CREBBP gene mutations in RTS provide valuable information for diagnosis, genetic counseling, and potential treatment options. It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or geneticist.
| Test Name | CREBBP Gene Rubinstein-Taybi 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 CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic DNA Test gene CREBBP |
| Test Details |
The CREBBP gene is associated with a rare genetic disorder called Rubinstein-Taybi syndrome (RTS). RTS is characterized by intellectual disability, distinctive facial features, and broad thumbs and toes. Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can be used to analyze multiple genes simultaneously. In the context of genetic testing for RTS, NGS can be used to sequence the CREBBP gene and identify any variations or mutations that may be present. A genetic test using NGS for RTS would involve obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA would then be extracted and prepared for sequencing. NGS technology would be used to sequence the entire coding region of the CREBBP gene, as well as any known regulatory regions. After sequencing, the data would be analyzed to identify any variations or mutations in the CREBBP gene. These variations could include single nucleotide variants (SNVs), insertions, deletions, or larger structural variants. The identified variations would be compared to a reference sequence to determine if they are pathogenic or likely to cause RTS. The results of the NGS genetic test for CREBBP gene mutations in RTS can provide valuable information for diagnosis, genetic counseling, and potentially guide treatment options. It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or geneticist. |
