KMT2D Gene Kabuki Syndrome Type 1 Genetic Test
Test Name: KMT2D Gene Kabuki Syndrome Type 1 Genetic Test
Components: DNA Labs UAE offers the KMT2D Gene Kabuki Syndrome Type 1 Genetic Test at a price of 4400.0 AED.
Sample Condition: The test requires a blood sample, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery: The test results will be delivered within 3 to 4 weeks.
Method: The KMT2D Gene Kabuki Syndrome Type 1 Genetic Test utilizes NGS (Next-Generation Sequencing) technology.
Test Type: The test falls under the category of Dysmorphology.
Doctor: The KMT2D Gene Kabuki Syndrome Type 1 Genetic Test is conducted by Pediatrics specialists.
Test Department: The test is conducted in the Genetics department.
Pre Test Information: Before undergoing the KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session is conducted to draw a pedigree chart of family members affected by the KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test gene KMT2D.
Test Details
The KMT2D gene is associated with Kabuki syndrome type 1, a rare genetic disorder characterized by distinct facial features, developmental delay, intellectual disability, and various other physical and health issues.
NGS (Next-Generation Sequencing) is a modern genetic testing method that allows for the analysis of multiple genes simultaneously. In the context of Kabuki syndrome type 1, NGS genetic testing can be used to identify mutations or variants in the KMT2D gene that may be causing the disorder.
NGS genetic testing involves obtaining a DNA sample, usually through a blood sample or saliva swab, and sequencing the DNA to analyze the specific genes of interest. The test can identify various types of genetic changes, including point mutations, insertions, deletions, and rearrangements in the KMT2D gene.
By identifying mutations in the KMT2D gene, NGS genetic testing can help confirm a diagnosis of Kabuki syndrome type 1 and provide valuable information for genetic counseling, management, and treatment options.
| Test Name | KMT2D Gene Kabuki syndrome type 1 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for KMT2D Gene Kabuki syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KMT2D Gene Kabuki syndrome type 1 NGS Genetic DNA Test gene KMT2D |
| Test Details |
The KMT2D gene is associated with Kabuki syndrome type 1, a rare genetic disorder characterized by distinct facial features, developmental delay, intellectual disability, and various other physical and health issues. NGS (Next-Generation Sequencing) is a modern genetic testing method that allows for the analysis of multiple genes simultaneously. In the context of Kabuki syndrome type 1, NGS genetic testing can be used to identify mutations or variants in the KMT2D gene that may be causing the disorder. NGS genetic testing involves obtaining a DNA sample, usually through a blood sample or saliva swab, and sequencing the DNA to analyze the specific genes of interest. The test can identify various types of genetic changes, including point mutations, insertions, deletions, and rearrangements in the KMT2D gene. By identifying mutations in the KMT2D gene, NGS genetic testing can help confirm a diagnosis of Kabuki syndrome type 1 and provide valuable information for genetic counseling, management, and treatment options. |
