PAFAH1B1 Gene Lissencephaly type 1 Genetic Test
Test Name: PAFAH1B1 Gene Lissencephaly type 1 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic DNA Test gene PAFAH1B1
Test Details
The PAFAH1B1 gene, also known as LIS1 gene, is associated with a condition called lissencephaly type 1. Lissencephaly is a rare genetic disorder characterized by the absence or underdevelopment of brain folds (gyri) and a smooth brain surface. This condition typically leads to severe intellectual disability, developmental delays, seizures, and other neurological problems.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of specific genes or the entire genome. In the context of lissencephaly type 1, NGS genetic testing can be used to identify mutations or variations in the PAFAH1B1 gene that may be responsible for the condition.
By analyzing the genetic material, such as DNA, obtained from a patient’s blood or other tissue samples, NGS can identify specific changes or mutations in the PAFAH1B1 gene that may be associated with lissencephaly type 1. This information can help in confirming a diagnosis, understanding the underlying cause of the condition, and providing genetic counseling to affected individuals and their families.
It is important to note that NGS genetic testing is typically performed by specialized laboratories and requires a healthcare professional’s order. The results of the test should be interpreted by a geneticist or other qualified healthcare provider who can provide appropriate counseling and guidance based on the findings.
Test Name | PAFAH1B1 Gene Lissencephaly 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 PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic DNA Test gene PAFAH1B1 |
Test Details |
The PAFAH1B1 gene, also known as LIS1 gene, is associated with a condition called lissencephaly type 1. Lissencephaly is a rare genetic disorder characterized by the absence or underdevelopment of brain folds (gyri) and a smooth brain surface. This condition typically leads to severe intellectual disability, developmental delays, seizures, and other neurological problems. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of specific genes or the entire genome. In the context of lissencephaly type 1, NGS genetic testing can be used to identify mutations or variations in the PAFAH1B1 gene that may be responsible for the condition. By analyzing the genetic material, such as DNA, obtained from a patient’s blood or other tissue samples, NGS can identify specific changes or mutations in the PAFAH1B1 gene that may be associated with lissencephaly type 1. This information can help in confirming a diagnosis, understanding the underlying cause of the condition, and providing genetic counseling to affected individuals and their families. It is important to note that NGS genetic testing is typically performed by specialized laboratories and requires a healthcare professional’s order. The results of the test should be interpreted by a geneticist or other qualified healthcare provider who can provide appropriate counseling and guidance based on the findings. |