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. |
