PIEZO1 Gene Dehydrated hereditary stomatocytosis Genetic Test
Test Name: PIEZO1 Gene Dehydrated hereditary stomatocytosis 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:
Hematology
Doctor:
Hematologist
Test Department:
Genetics
Pre Test Information:
Clinical History of Patient who is going for PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test gene PIEZO1
Test Details
Dehydrated hereditary stomatocytosis (DHS) is a rare genetic disorder characterized by abnormal red blood cells that are more permeable to water and have a decreased ability to maintain their shape. This condition can lead to a variety of symptoms, including anemia, jaundice, fatigue, and an enlarged spleen.
The PIEZO1 gene is associated with DHS, and mutations in this gene can cause the condition. The PIEZO1 gene provides instructions for making a protein that is involved in the regulation of cell shape and volume. Mutations in this gene can disrupt the normal function of the protein, leading to the characteristic features of DHS.
NGS (Next-Generation Sequencing) is a genetic testing method that can be used to identify mutations in the PIEZO1 gene. This technique allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like DHS.
By performing a NGS genetic test on an individual suspected of having DHS, healthcare professionals can identify mutations in the PIEZO1 gene and confirm the diagnosis. This information is crucial for providing appropriate medical management and genetic counseling to affected individuals and their families.
| Test Name | PIEZO1 Gene Dehydrated hereditary stomatocytosis 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 | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic DNA Test gene PIEZO1 |
| Test Details |
Dehydrated hereditary stomatocytosis (DHS) is a rare genetic disorder characterized by abnormal red blood cells that are more permeable to water and have a decreased ability to maintain their shape. This condition can lead to a variety of symptoms, including anemia, jaundice, fatigue, and an enlarged spleen. The PIEZO1 gene is associated with DHS, and mutations in this gene can cause the condition. The PIEZO1 gene provides instructions for making a protein that is involved in the regulation of cell shape and volume. Mutations in this gene can disrupt the normal function of the protein, leading to the characteristic features of DHS. NGS (Next-Generation Sequencing) is a genetic testing method that can be used to identify mutations in the PIEZO1 gene. This technique allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like DHS. By performing a NGS genetic test on an individual suspected of having DHS, healthcare professionals can identify mutations in the PIEZO1 gene and confirm the diagnosis. This information is crucial for providing appropriate medical management and genetic counseling to affected individuals and their families. |
