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UBR1 Gene Johanson Blizzard Syndrome Genetic Test Cost

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

-21%

The UBR1 Gene Johanson Blizzard Syndrome Genetic Test is a specific diagnostic tool used to identify mutations in the UBR1 gene, which are associated with Johanson-Blizzard Syndrome (JBS). JBS is a rare genetic disorder characterized by a spectrum of symptoms including exocrine pancreatic insufficiency, nasal wing hypoplasia, and various other anomalies affecting the endocrine system, the gastrointestinal tract, and physical development. The test involves analyzing the patient’s DNA to detect mutations in the UBR1 gene that are known to cause this syndrome, providing crucial information for accurate diagnosis and management of the condition.

Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis leveraging advanced genomic technologies to ensure high accuracy and reliability. The cost of the UBR1 Gene Johanson Blizzard Syndrome Genetic Test is 4400 AED, reflecting the intricate processes and specialized expertise required to perform this sophisticated analysis. By opting for this test at DNA Labs UAE, patients and their families can expect professional service, detailed results, and support in understanding the implications of the genetic findings for the management of Johanson-Blizzard Syndrome.

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UBR1 Gene Johanson Blizzard Syndrome Genetic Test

At DNA Labs UAE, we offer the UBR1 Gene Johanson Blizzard syndrome genetic test. This test helps in diagnosing a rare genetic disorder known as Johanson-Blizzard syndrome. This syndrome affects multiple body systems and is characterized by intellectual disability, growth retardation, abnormal facial features, hearing loss, and pancreatic insufficiency.

The UBR1 gene is associated with Johanson-Blizzard syndrome. To perform this genetic test, we use NGS (Next-Generation Sequencing) technology. NGS genetic testing allows for the simultaneous analysis of multiple genes or even the entire genome. By sequencing the DNA of an individual and comparing it to a reference genome, we can identify any genetic changes or mutations in the UBR1 gene.

Test Details

  • Components: UBR1 Gene Johanson Blizzard syndrome genetic test
  • Price: AED 4400.0
  • 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 UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test gene UBR1

Benefits of NGS Genetic Testing

NGS genetic testing has revolutionized the field of genetic testing. It allows for the detection of a wide range of genetic variations in a more efficient and cost-effective manner compared to traditional sequencing methods. By performing NGS genetic testing on the UBR1 gene, healthcare professionals can confirm a diagnosis of Johanson-Blizzard syndrome. This enables them to provide appropriate medical management and genetic counseling to affected individuals and their families.

Conclusion

If you suspect that you or a family member may have Johanson-Blizzard syndrome, our UBR1 Gene Johanson Blizzard syndrome genetic test can provide the answers you need. With our state-of-the-art NGS technology, we can accurately diagnose this rare genetic disorder and help you receive the appropriate medical care and support. Contact DNA Labs UAE today to schedule your genetic test.

Test Name UBR1 Gene Johanson Blizzard 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 Hepatology Nephrology Endocrinology Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test gene UBR1
Test Details

The UBR1 gene is associated with a rare genetic disorder called Johanson-Blizzard syndrome. This syndrome affects multiple body systems and is characterized by intellectual disability, growth retardation, abnormal facial features, hearing loss, and pancreatic insufficiency.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or even the entire genome. It can be used to identify mutations or variations in the UBR1 gene, which can help diagnose Johanson-Blizzard syndrome.

NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any genetic changes. This technology has revolutionized genetic testing as it allows for the detection of a wide range of genetic variations in a more efficient and cost-effective manner compared to traditional sequencing methods.

By performing NGS genetic testing on the UBR1 gene, healthcare professionals can confirm a diagnosis of Johanson-Blizzard syndrome and provide appropriate medical management and genetic counseling to affected individuals and their families.

SKU: TEST-3690 Category:

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