GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test
The GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test is a genetic test that analyzes the GGCX gene for mutations associated with a condition called pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency. This rare genetic disorder affects the connective tissues in various parts of the body, including the skin, eyes, and blood vessels. It is characterized by the progressive calcification and fragmentation of elastic fibers, leading to the development of yellowish bumps on the skin, vision problems, and cardiovascular complications.
The GGCX gene is responsible for encoding the gamma-glutamyl carboxylase enzyme, which plays a crucial role in the activation of certain coagulation factors and proteins involved in the formation of blood clots. Mutations in the GGCX gene can impair the function of the gamma-glutamyl carboxylase enzyme, leading to a deficiency in the activation of coagulation factors. This can result in a bleeding disorder, characterized by prolonged bleeding and easy bruising.
The GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test utilizes NGS (Next-Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes, including the GGCX gene, in a single test. This technology enables the detection of various types of genetic mutations, such as point mutations, insertions, deletions, and rearrangements, providing a comprehensive analysis of the GGCX gene.
The cost of the GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test is AED 4400.0. The test can be performed on blood or extracted DNA, or by using one drop of blood on an FTA card. The report delivery time is approximately 3 to 4 weeks.
To undergo the GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test, a patient should provide their clinical history and may need to participate in a genetic counseling session to draw a pedigree chart of family members affected by the condition. The test is conducted by a hematologist in the Genetics department.
The results of the GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Genetic Test can help confirm a diagnosis of pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency and guide appropriate management and treatment options. It can also provide valuable information for genetic counseling and family planning.
| Test Name | GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 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 GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic DNA Test gene GGCX |
| Test Details |
GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test is a genetic test that analyzes the GGCX gene for mutations associated with a condition called pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency. Pseudoxanthoma elasticum-like disorder is a rare genetic disorder that affects the connective tissues in various parts of the body, including the skin, eyes, and blood vessels. It is characterized by the progressive calcification and fragmentation of elastic fibers, leading to the development of yellowish bumps on the skin, vision problems, and cardiovascular complications. This genetic test specifically looks for mutations in the GGCX gene, which is responsible for encoding the gamma-glutamyl carboxylase enzyme. This enzyme plays a crucial role in the activation of certain coagulation factors and proteins involved in the formation of blood clots. Mutations in the GGCX gene can impair the function of the gamma-glutamyl carboxylase enzyme, leading to a deficiency in the activation of coagulation factors. This can result in a bleeding disorder, characterized by prolonged bleeding and easy bruising. The NGS (Next-Generation Sequencing) technology used in this genetic test allows for the simultaneous analysis of multiple genes, including the GGCX gene, in a single test. It enables the detection of various types of genetic mutations, such as point mutations, insertions, deletions, and rearrangements, providing a comprehensive analysis of the GGCX gene. The results of this genetic test can help in confirming a diagnosis of pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency and guide appropriate management and treatment options. It can also provide information for genetic counseling and family planning. |
