ALAS2 Gene Protoporphyria erythropoietic X-linked Genetic Test
Components
- Price: 4400.0 AED
- Sample Condition: Blood
- 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 ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Protoporphyria, erythropoietic, X-linked
Test Details
ALAS2 gene protoporphyria, erythropoietic, X-linked NGS genetic test is a genetic test that is used to detect mutations in the ALAS2 gene. This gene is responsible for encoding an enzyme called aminolevulinate synthase 2, which plays a crucial role in the production of heme, an essential component of hemoglobin.
Protoporphyria is a group of rare genetic disorders characterized by a deficiency of certain enzymes involved in heme production. In erythropoietic protoporphyria, there is a deficiency of ferrochelatase, another enzyme involved in heme synthesis. This deficiency leads to the accumulation of protoporphyrin in the body, causing photosensitivity and other symptoms.
The ALAS2 gene is located on the X chromosome, making the condition X-linked. This means that the disorder primarily affects males, while females are typically carriers of the mutated gene.
The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations.
The ALAS2 gene protoporphyria, erythropoietic, X-linked NGS genetic test can help in confirming a diagnosis of erythropoietic protoporphyria caused by mutations in the ALAS2 gene. It can also be used for carrier testing in females with a family history of the condition. Additionally, this test can provide valuable information for genetic counseling and family planning.
It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors. They can provide appropriate guidance and support based on the results of the test.
| Test Name | ALAS2 Gene Protoporphyria erythropoietic X-linked Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| 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 ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Protoporphyria, erythropoietic, X-linked |
| Test Details |
ALAS2 gene protoporphyria, erythropoietic, X-linked NGS genetic test is a genetic test that is used to detect mutations in the ALAS2 gene. This gene is responsible for encoding an enzyme called aminolevulinate synthase 2, which plays a crucial role in the production of heme, an essential component of hemoglobin. Protoporphyria is a group of rare genetic disorders characterized by a deficiency of certain enzymes involved in heme production. In erythropoietic protoporphyria, there is a deficiency of ferrochelatase, another enzyme involved in heme synthesis. This deficiency leads to the accumulation of protoporphyrin in the body, causing photosensitivity and other symptoms. The ALAS2 gene is located on the X chromosome, making the condition X-linked. This means that the disorder primarily affects males, while females are typically carriers of the mutated gene. The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations. The ALAS2 gene protoporphyria, erythropoietic, X-linked NGS genetic test can help in confirming a diagnosis of erythropoietic protoporphyria caused by mutations in the ALAS2 gene. It can also be used for carrier testing in females with a family history of the condition. Additionally, this test can provide valuable information for genetic counseling and family planning. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors. They can provide appropriate guidance and support based on the results of the test. |
