MCOLN1 Gene Mucolipidosis type 4 Genetic Test
Test Name: MCOLN1 Gene Mucolipidosis type 4 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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for MCOLN1 Gene Mucolipidosis type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Mucolipidosis type 4.
Overview
The MCOLN1 gene is associated with a genetic disorder called Mucolipidosis type 4 (ML4). ML4 is a rare autosomal recessive disorder that affects the lysosomal system, leading to the accumulation of various substances within cells.
NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations. In the context of ML4, NGS genetic testing can be used to identify mutations in the MCOLN1 gene.
By analyzing the MCOLN1 gene, NGS testing can determine if there are any variations or mutations that are associated with ML4. This can help in confirming a diagnosis of ML4 and providing information about the specific mutation(s) present.
NGS genetic testing is a powerful tool in diagnosing genetic disorders like ML4 as it allows for the analysis of multiple genes simultaneously, providing a comprehensive genetic profile. This can help in understanding the underlying cause of the disorder and may also have implications for treatment options and genetic counseling.
Test Name | MCOLN1 Gene Mucolipidosis type 4 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 | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for MCOLN1 Gene Mucolipidosis type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucolipidosis type 4 |
Test Details |
The MCOLN1 gene is associated with a genetic disorder called Mucolipidosis type 4 (ML4). ML4 is a rare autosomal recessive disorder that affects the lysosomal system, leading to the accumulation of various substances within cells. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations. In the context of ML4, NGS genetic testing can be used to identify mutations in the MCOLN1 gene. By analyzing the MCOLN1 gene, NGS testing can determine if there are any variations or mutations that are associated with ML4. This can help in confirming a diagnosis of ML4 and providing information about the specific mutation(s) present. NGS genetic testing is a powerful tool in diagnosing genetic disorders like ML4 as it allows for the analysis of multiple genes simultaneously, providing a comprehensive genetic profile. This can help in understanding the underlying cause of the disorder and may also have implications for treatment options and genetic counseling. |