CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test sale cost 4400 AED
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CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the CREBBP gene, which are associated with Rubinstein-Taybi Syndrome (RTS). RTS is a rare genetic disorder characterized by distinctive facial features, broad thumbs and toes, short stature, and varying degrees of intellectual disability. The test plays a crucial role in the early diagnosis and management of RTS, enabling targeted interventions and support for affected individuals.

Performed using advanced genetic sequencing techniques, this test analyzes the CREBBP gene for specific mutations that lead to the syndrome. Given the complexity of the disorder and the gene involved, this test is a critical tool for genetic counselors and healthcare providers in confirming a diagnosis of Rubinstein-Taybi Syndrome, thus facilitating appropriate medical and developmental interventions.

The cost of the CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test at DNA Labs UAE is set at 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the CREBBP gene. For families and individuals undergoing this testing, it represents a significant step towards understanding their genetic health and making informed decisions about their care and management.

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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.

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