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UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test

4,400 د.إ

-21%

The UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test is a specialized diagnostic tool used to identify mutations in the UBE3B gene, which are linked to a rare genetic disorder. This condition is characterized by a combination of facial anomalies including blepharophimosis (a condition where the eyelids are horizontally shortened), ptosis (drooping of the upper eyelid), and intellectual disability among other possible features.

DNA Labs UAE offers this comprehensive genetic test to help in the diagnosis and management of individuals suspected of having this syndrome. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for specific mutations in the UBE3B gene that are known to cause the disorder.

The cost of the UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment can be crucial for affected families, providing them with a definitive diagnosis and enabling healthcare providers to tailor management and support strategies to the individual’s needs, potentially improving quality of life and outcomes.

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UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome Genetic Test

Welcome to the DNA Labs UAE blog, where we provide detailed information about genetic tests. In this blog post, we will discuss the UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome Genetic Test, including its cost, symptoms, diagnosis, and more.

Test Details

The UBE3B gene is associated with Blepharophimosis-ptosis-intellectual disability syndrome (BPID), a rare genetic disorder characterized by a combination of intellectual disability, eyelid abnormalities (blepharophimosis and ptosis), and distinctive facial features.

NGS (Next-Generation Sequencing) genetic testing can be used to detect mutations in the UBE3B gene. This type of testing can analyze large amounts of genetic data in a short amount of time, making it a useful tool for identifying the genetic cause of BPID and other genetic disorders.

NGS testing can be performed on a blood or saliva sample and can provide a comprehensive analysis of the entire UBE3B gene, including all of its exons and introns. This can help to identify mutations that may be missed by other types of genetic testing, such as Sanger sequencing.

NGS testing for BPID can be ordered by a healthcare provider who suspects that a patient may have this condition based on their symptoms and medical history. The results of the test can help to confirm a diagnosis of BPID, which can be important for providing appropriate medical care and genetic counseling for affected individuals and their families.

Test Name: UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome Genetic Test

  • Components: NGS Technology
  • 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: Ophthalmology Disorders
  • Doctor: Ophthalmologist
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome NGS Genetic DNA Test gene UBE3B

Thank you for reading our blog post about the UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome Genetic Test. If you have any questions or would like to schedule a test, please contact DNA Labs UAE.

Test Name UBE3B Gene Blepharophimosis-ptosis-intellectual disability 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 Ophthalmology Disorders
Doctor Ophthalmologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UBE3B Gene Blepharophimosis-ptosis-intellectual disability syndrome NGS Genetic DNA Test gene UBE3B
Test Details

The UBE3B gene is associated with Blepharophimosis-ptosis-intellectual disability syndrome (BPID), a rare genetic disorder characterized by a combination of intellectual disability, eyelid abnormalities (blepharophimosis and ptosis), and distinctive facial features.

NGS (Next-Generation Sequencing) genetic testing can be used to detect mutations in the UBE3B gene. This type of testing can analyze large amounts of genetic data in a short amount of time, making it a useful tool for identifying the genetic cause of BPID and other genetic disorders.

NGS testing can be performed on a blood or saliva sample and can provide a comprehensive analysis of the entire UBE3B gene, including all of its exons and introns. This can help to identify mutations that may be missed by other types of genetic testing, such as Sanger sequencing.

NGS testing for BPID can be ordered by a healthcare provider who suspects that a patient may have this condition based on their symptoms and medical history. The results of the test can help to confirm a diagnosis of BPID, which can be important for providing appropriate medical care and genetic counseling for affected individuals and their families.