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ROGDI Gene Kohlschutter Tonz syndrome Genetic Test

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

-21%

The ROGDI Gene Kohlschutter-Tonz Syndrome Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the ROGDI gene, which are linked to Kohlschutter-Tonz Syndrome (KTS). KTS is a rare genetic disorder characterized by the combination of amelogenesis imperfecta (imperfect formation of tooth enamel), epilepsy, and progressive neurodegeneration leading to intellectual disability. The test plays a crucial role in the early diagnosis and management of the syndrome, enabling targeted treatment plans and genetic counseling for affected families.

Priced at 4400 AED, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect the presence of specific mutations in the ROGDI gene. By pinpointing these genetic alterations, the test provides conclusive evidence for the diagnosis of Kohlschutter-Tonz Syndrome, guiding healthcare providers in offering the most appropriate care and support for patients and their families.

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ROGDI Gene Kohlschutter Tonz Syndrome Genetic Test

Test Details

The ROGDI (Rogdi Gene) Kohlschutter Tonz Syndrome NGS (Next-Generation Sequencing) Genetic Test is a diagnostic test used to identify mutations or changes in the ROGDI gene associated with Kohlschutter Tonz syndrome.

Kohlschutter Tonz syndrome is a rare genetic disorder characterized by intellectual disability, seizures, movement problems, and a characteristic facial appearance. It is caused by mutations in the ROGDI gene, which is involved in the development and function of the brain.

NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. In the context of genetic testing, NGS can be used to analyze the ROGDI gene and identify any mutations or changes that may be present.

Test Components and Price

  • Test Name: ROGDI Gene Kohlschutter Tonz 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
  • Test Type: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for ROGDI Gene Kohlschutter Tonz Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ROGDI Gene Kohlschutter Tonz syndrome.

Test Procedure

The ROGDI Kohlschutter Tonz Syndrome NGS Genetic Test involves obtaining a DNA sample, typically through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or changes in the ROGDI gene.

Test Results and Implications

The results of the test can help confirm a diagnosis of Kohlschutter Tonz syndrome and provide information for genetic counseling and management of the condition. It is important to note that genetic testing for Kohlschutter Tonz syndrome is typically performed by healthcare professionals specializing in genetics or genetic counseling.

The test may not be widely available and may require a referral from a healthcare provider. Additionally, the test may have limitations, and a negative test result does not completely rule out the possibility of having the condition.

Test Name ROGDI Gene Kohlschutter Tonz syndrome 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 ROGDI Gene Kohlschutter Tonz syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ROGDI Gene Kohlschutter Tonz syndrome
Test Details

ROGDI (Rogdi Gene) Kohlschutter Tonz Syndrome NGS (Next-Generation Sequencing) Genetic Test is a diagnostic test used to identify mutations or changes in the ROGDI gene associated with Kohlschutter Tonz syndrome.

Kohlschutter Tonz syndrome is a rare genetic disorder characterized by intellectual disability, seizures, movement problems, and a characteristic facial appearance. It is caused by mutations in the ROGDI gene, which is involved in the development and function of the brain.

NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. In the context of genetic testing, NGS can be used to analyze the ROGDI gene and identify any mutations or changes that may be present.

The ROGDI Kohlschutter Tonz Syndrome NGS Genetic Test involves obtaining a DNA sample, typically through a blood sample or a cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or changes in the ROGDI gene. The results of the test can help confirm a diagnosis of Kohlschutter Tonz syndrome and provide information for genetic counseling and management of the condition.

It is important to note that genetic testing for Kohlschutter Tonz syndrome is typically performed by healthcare professionals specializing in genetics or genetic counseling. The test may not be widely available and may require a referral from a healthcare provider. Additionally, the test may have limitations, and a negative test result does not completely rule out the possibility of having the condition.