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RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test

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

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The RDH11 gene is associated with a rare genetic disorder characterized by a triad of clinical features: retinal dystrophy, juvenile cataracts, and short stature. This condition is inherited in an autosomal recessive pattern, meaning that individuals must receive a mutated gene from each parent to be affected. The RDH11 gene plays a crucial role in the visual cycle and the metabolism of retinoids, which are compounds essential for vision and overall growth. Mutations in this gene disrupt these processes, leading to the development of the associated symptoms.

To diagnose this condition, a genetic test targeting the RDH11 gene can be conducted. This test involves analyzing the DNA to identify mutations in the RDH11 gene that are known to cause the syndrome. It is a critical step for families seeking answers for their loved ones showing symptoms consistent with this syndrome, as a definitive genetic diagnosis can guide management and treatment strategies.

In the UAE, this specific genetic test is available at DNA Labs UAE, a facility equipped with advanced genetic testing technologies. The cost of the RDH11 gene test is 4400 AED. Opting for this test at DNA Labs UAE ensures a comprehensive analysis by experienced geneticists, providing families with accurate and actionable insights into their genetic health. This test not only aids in the diagnosis but also helps in understanding the risk of passing the condition to future generations, facilitating informed decisions regarding family planning.

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RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test

Are you concerned about your child’s retinal dystrophy, juvenile cataracts, and short stature? DNA Labs UAE offers a comprehensive genetic test to diagnose RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome.

Test Details

RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome is a genetic disorder characterized by a combination of retinal dystrophy, juvenile cataracts, and short stature. Our Next Generation Sequencing (NGS) technology allows us to analyze multiple genes simultaneously, providing accurate and detailed results.

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 the test, we recommend a genetic counseling session to gather a comprehensive clinical history of the patient and draw a pedigree chart of family members affected by RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome. This information will aid in accurate diagnosis and genetic counseling.

How Does the Test Work?

NGS genetic testing analyzes the patient’s DNA to identify mutations or variations in the RDH11 gene that may be responsible for the development of the syndrome. This information is crucial for an accurate diagnosis, genetic counseling, and potential treatment decisions. It’s important to note that genetic testing should be performed by healthcare professionals with expertise in genetics and should be interpreted in conjunction with a thorough clinical evaluation and family history.

Don’t let uncertainty overshadow your child’s health. Contact DNA Labs UAE today to schedule your RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome genetic test.

Test Name RDH11 Gene Retinal dystrophy juvenile cataracts and short stature 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 RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic DNA Test gene RDH11
Test Details

RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome is a genetic disorder characterized by a combination of retinal dystrophy (a group of inherited disorders that affect the retina), juvenile cataracts (clouding of the lens of the eye that occurs in childhood), and short stature (abnormally small height for age).

NGS (Next Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome, NGS genetic testing can be used to identify mutations or variations in the RDH11 gene that may be responsible for the development of the syndrome.

By analyzing the patient’s DNA, NGS can provide valuable information about the specific genetic changes that may be causing the symptoms of the syndrome. This information can help with accurate diagnosis, genetic counseling, and potentially guide treatment decisions.

It’s important to note that genetic testing, including NGS, is typically performed by healthcare professionals with expertise in genetics. The results of genetic testing should be interpreted in conjunction with a thorough clinical evaluation and family history to provide a comprehensive understanding of the patient’s condition.

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