Glucose-6-Phosphate Dehydrogenase G6PD Full Length Gene Sequence Analysis Test
Test Name: Glucose-6-Phosphate Dehydrogenase G6PD full length gene sequence analysis
Components: Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml)
Price: 9010.0 AED
Sample Condition: Peripheral blood/Amniotic Fluid/ Chorionic villi/ Cord blood
Report Delivery: 2-3 weeks
Method: Sanger Sequencing
Test Type: Genetics
Doctor: Gynecologist
Test Department:
Pre Test Information: Glucose-6-Phosphate Dehydrogenase (G6PD) full length gene sequence analysis can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details: Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme involved in the pentose phosphate pathway, which plays a crucial role in the metabolism of glucose. G6PD catalyzes the conversion of glucose-6-phosphate to 6-phosphogluconolactone, which generates NADPH, an important reducing agent for biosynthesis and cellular defense against oxidative stress. Mutations in the G6PD gene can lead to a deficiency in the enzyme activity, causing hemolytic anemia, a condition in which red blood cells are destroyed faster than they can be produced. G6PD deficiency is the most common enzymatic disorder worldwide, affecting more than 400 million people, particularly in regions where malaria is endemic. To analyze the full-length gene sequence of G6PD, DNA samples from patients or healthy individuals can be extracted from blood or other tissues and amplified by polymerase chain reaction (PCR) using primers specific to the G6PD gene. The PCR products can then be purified and sequenced using Sanger sequencing or next-generation sequencing (NGS) technologies. The G6PD gene consists of 13 exons and spans approximately 18 kilobases on chromosome Xq28. More than 200 mutations have been identified in the G6PD gene, with varying degrees of enzyme deficiency and clinical manifestations. Some mutations are associated with severe G6PD deficiency and hemolytic anemia, while others confer mild or moderate enzyme deficiency with little or no clinical symptoms. The full-length gene sequence analysis of G6PD can provide valuable information for the diagnosis, management, and genetic counseling of individuals with G6PD deficiency or related disorders. It can also facilitate the development of new diagnostic tools, therapies, and preventive strategies for G6PD-related diseases.
Test Name | Glucose-6-Phosphate Dehydrogenase G6PD full length gene sequence analysis Test |
---|---|
Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) |
Price | 9010.0 AED |
Sample Condition | Peripheral blood\/Amniotic Fluid\/ Chorionic villi\/ Cord blood |
Report Delivery | 2-3 weeks |
Method | Sanger Sequencing |
Test type | Genetics |
Doctor | Gynecologist |
Test Department: | |
Pre Test Information | Glucose-6-Phosphate Dehydrogenase (G6PD) full length gene sequence analysis can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme involved in the pentose phosphate pathway, which plays a crucial role in the metabolism of glucose. G6PD catalyzes the conversion of glucose-6-phosphate to 6-phosphogluconolactone, which generates NADPH, an important reducing agent for biosynthesis and cellular defense against oxidative stress. Mutations in the G6PD gene can lead to a deficiency in the enzyme activity, causing hemolytic anemia, a condition in which red blood cells are destroyed faster than they can be produced. G6PD deficiency is the most common enzymatic disorder worldwide, affecting more than 400 million people, particularly in regions where malaria is endemic. To analyze the full-length gene sequence of G6PD, DNA samples from patients or healthy individuals can be extracted from blood or other tissues and amplified by polymerase chain reaction (PCR) using primers specific to the G6PD gene. The PCR products can then be purified and sequenced using Sanger sequencing or next-generation sequencing (NGS) technologies. The G6PD gene consists of 13 exons and spans approximately 18 kilobases on chromosome Xq28. More than 200 mutations have been identified in the G6PD gene, with varying degrees of enzyme deficiency and clinical manifestations. Some mutations are associated with severe G6PD deficiency and hemolytic anemia, while others confer mild or moderate enzyme deficiency with little or no clinical symptoms. The full-length gene sequence analysis of G6PD can provide valuable information for the diagnosis, management, and genetic counseling of individuals with G6PD deficiency or related disorders. It can also facilitate the development of new diagnostic tools, therapies, and preventive strategies for G6PD-related diseases. |