Achondroplasia FGFR3 Full Gene Sequence Analysis Test
Test Name: Achondroplasia FGFR3 full gene sequence analysis Test
Components: Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml)
Price: 6000.0 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: DNA Labs UAE
Pre Test Information: Achondroplasia (FGFR3 full 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
Achondroplasia is a genetic disorder that affects bone growth and results in dwarfism. It is caused by a mutation in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue.
FGFR3 full gene sequence analysis is a genetic test that examines the entire FGFR3 gene to detect mutations that may cause achondroplasia. The test can identify specific changes in the DNA sequence that may disrupt the normal function of the FGFR3 protein, leading to abnormal bone growth and skeletal deformities.
This test is typically recommended for individuals with a family history of achondroplasia or for those who have symptoms suggestive of the condition, such as short stature, bowed legs, and a prominent forehead. It can also be used for prenatal diagnosis to determine if a fetus has inherited the mutation from one or both parents.
FGFR3 full gene sequence analysis is a highly accurate test that can help diagnose achondroplasia and provide information for genetic counseling and family planning. However, it is important to note that not all mutations in the FGFR3 gene cause achondroplasia, and other genetic and environmental factors may also contribute to the condition.
Test Name | Achondroplasia FGFR3 full gene sequence analysis Test |
---|---|
Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) |
Price | 6000.0 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 | Achondroplasia (FGFR3 full 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 |
Achondroplasia is a genetic disorder that affects bone growth and results in dwarfism. It is caused by a mutation in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. FGFR3 full gene sequence analysis is a genetic test that examines the entire FGFR3 gene to detect mutations that may cause achondroplasia. The test can identify specific changes in the DNA sequence that may disrupt the normal function of the FGFR3 protein, leading to abnormal bone growth and skeletal deformities. This test is typically recommended for individuals with a family history of achondroplasia or for those who have symptoms suggestive of the condition, such as short stature, bowed legs, and a prominent forehead. It can also be used for prenatal diagnosis to determine if a fetus has inherited the mutation from one or both parents. FGFR3 full gene sequence analysis is a highly accurate test that can help diagnose achondroplasia and provide information for genetic counseling and family planning. However, it is important to note that not all mutations in the FGFR3 gene cause achondroplasia, and other genetic and environmental factors may also contribute to the condition. |