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NPHP1 Gene Joubert Syndrome Type 4 Genetic Test

4,400 د.إ

-21%

The “NPHP1 Gene Joubert Syndrome Type 4 Genetic Test” is a specialized diagnostic assessment conducted at DNA Labs UAE, designed to identify mutations in the NPHP1 gene, which are linked to Joubert Syndrome Type 4. This rare genetic disorder is characterized by a range of symptoms including coordination and developmental delays, abnormal eye movements, and the distinctive “molar tooth sign” visible on brain imaging, indicative of cerebellar and brainstem malformations. The test, priced at 4400 AED, is crucial for accurate diagnosis, enabling targeted management and genetic counseling for affected families. By analyzing a patient’s DNA, the test can confirm the presence of the specific genetic alterations associated with this condition, guiding treatment plans and providing essential information for understanding the risk of recurrence in future pregnancies.

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NPHP1 Gene Joubert Syndrome Type 4 Genetic Test

Test Details

The NPHP1 gene is associated with Joubert syndrome type 4, a rare genetic disorder characterized by a specific brain abnormality known as the “molar tooth sign.” This syndrome affects the development of the cerebellum and brainstem, leading to various neurological and developmental symptoms.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of genes. In the context of Joubert syndrome type 4, NGS genetic testing can be used to identify mutations or variations in the NPHP1 gene that may be responsible for the condition. This testing involves sequencing the entire NPHP1 gene or specific regions of interest using advanced technology.

NGS genetic testing for Joubert syndrome type 4 can be helpful in confirming a diagnosis, providing genetic counseling to affected individuals and their families, and guiding potential treatment options or management strategies. It is typically performed by a specialized genetic testing laboratory and may require a blood or saliva sample from the individual undergoing testing.

Test Components

  • Test Name: NPHP1 Gene Joubert Syndrome Type 4 Genetic Test
  • 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for NPHP1 Gene Joubert Syndrome Type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPHP1 Gene Joubert Syndrome Type 4.

Test Cost and Delivery

The cost of the NPHP1 Gene Joubert Syndrome Type 4 Genetic Test is 4400.0 AED. The report will be delivered within 3 to 4 weeks.

Conclusion

NGS genetic testing for Joubert syndrome type 4 can provide valuable insights into the diagnosis and management of this rare genetic disorder. By identifying mutations or variations in the NPHP1 gene, this test can help in providing appropriate genetic counseling and guiding treatment options for affected individuals and their families.

Test Name NPHP1 Gene Joubert syndrome type 4 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for NPHP1 Gene Joubert syndrome type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NPHP1 Gene Joubert syndrome type 4
Test Details

The NPHP1 gene is associated with Joubert syndrome type 4, which is a rare genetic disorder characterized by a specific brain abnormality called the “molar tooth sign.” Joubert syndrome affects the development of the cerebellum and brainstem, leading to various neurological and developmental symptoms.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze the DNA sequence of genes. In the context of Joubert syndrome type 4, NGS genetic testing can be used to identify mutations or variations in the NPHP1 gene that may be responsible for the condition.

NGS testing involves sequencing the entire NPHP1 gene or specific regions of interest using advanced technology. This allows for a comprehensive analysis of the gene, which can help in diagnosing Joubert syndrome type 4 and identifying the specific genetic variant causing the condition.

NGS genetic testing for Joubert syndrome type 4 can be helpful in confirming a diagnosis, providing genetic counseling to affected individuals and their families, and guiding potential treatment options or management strategies. It is typically performed by a specialized genetic testing laboratory and may require a blood or saliva sample from the individual undergoing testing.