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INPP5E Gene Joubert Syndrome Type 1 Genetic Test

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

-21%

The INPP5E Gene Joubert Syndrome Type 1 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect mutations in the INPP5E gene, which are associated with Joubert Syndrome Type 1. Joubert Syndrome is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brain stem, leading to a range of developmental delays and physical abnormalities. The test is particularly crucial for families with a history of the syndrome or individuals showing symptoms, as early detection can significantly influence management and treatment strategies. Priced at 4400 AED, this genetic test provides a comprehensive analysis, offering insights that can guide healthcare decisions and support for affected individuals and their families.

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  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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INPP5E Gene Joubert syndrome type 1 Genetic Test

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

Neurological Disorders

Doctor

Neurologist

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for INPP5E Gene Joubert syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with INPP5E Gene Joubert syndrome type 1.

Test Details

The INPP5E gene is associated with Joubert syndrome type 1, which is a rare genetic disorder that affects the development of the brain. Joubert syndrome is characterized by a specific brain malformation known as the “molar tooth sign” on brain imaging, as well as a variety of symptoms including intellectual disability, breathing abnormalities, and coordination problems.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic variations that may be associated with a particular condition. In the case of Joubert syndrome type 1, an NGS genetic test can be used to analyze the INPP5E gene for any pathogenic variants that may be present.

The NGS test involves obtaining a DNA sample from the individual being tested, usually through a blood sample or a cheek swab. The DNA is then sequenced using high-throughput sequencing technology, which allows for the rapid and efficient analysis of multiple genes simultaneously. The resulting genetic data is then compared to a reference genome to identify any variations or mutations in the INPP5E gene that may be causative or associated with Joubert syndrome type 1.

NGS genetic testing for Joubert syndrome type 1 can provide valuable information for diagnosis, prognosis, and genetic counseling. It can help confirm a clinical diagnosis, identify carriers of the condition, and inform reproductive decision-making for individuals and families affected by Joubert syndrome type 1.

Test Name INPP5E Gene Joubert syndrome type 1 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 INPP5E Gene Joubert syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with INPP5E Gene Joubert syndrome type 1
Test Details

The INPP5E gene is associated with Joubert syndrome type 1, which is a rare genetic disorder that affects the development of the brain. Joubert syndrome is characterized by a specific brain malformation known as the “molar tooth sign” on brain imaging, as well as a variety of symptoms including intellectual disability, breathing abnormalities, and coordination problems.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic variations that may be associated with a particular condition. In the case of Joubert syndrome type 1, an NGS genetic test can be used to analyze the INPP5E gene for any pathogenic variants that may be present.

The NGS test involves obtaining a DNA sample from the individual being tested, usually through a blood sample or a cheek swab. The DNA is then sequenced using high-throughput sequencing technology, which allows for the rapid and efficient analysis of multiple genes simultaneously. The resulting genetic data is then compared to a reference genome to identify any variations or mutations in the INPP5E gene that may be causative or associated with Joubert syndrome type 1.

NGS genetic testing for Joubert syndrome type 1 can provide valuable information for diagnosis, prognosis, and genetic counseling. It can help confirm a clinical diagnosis, identify carriers of the condition, and inform reproductive decision-making for individuals and families affected by Joubert syndrome type 1.