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Achondroplasia FGFR3 Full Gene Sequence Analysis Test

6,000 د.إ

-25%

The Achondroplasia FGFR3 Full Gene Sequence Analysis Test is a specialized genetic test designed to identify mutations in the FGFR3 gene, which are responsible for achondroplasia, the most common form of dwarfism. This condition is characterized by a specific pattern of physical features and skeletal abnormalities, including shortened limbs and an enlarged head. The FGFR3 gene plays a crucial role in the development and maintenance of bone and tissue, and mutations in this gene disrupt normal growth patterns, leading to the characteristics associated with achondroplasia.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves analyzing the entire sequence of the FGFR3 gene to pinpoint any mutations. This comprehensive approach ensures high accuracy in diagnosis, which is critical for understanding the condition, guiding treatment decisions, and offering genetic counseling for families. The cost of the test is 6000 AED, reflecting the advanced technology and expertise required to perform this intricate analysis.

This test is particularly valuable for prospective parents with a family history of achondroplasia, couples seeking genetic counseling, and individuals displaying symptoms related to the condition. By confirming the presence or absence of FGFR3 gene mutations, the test provides essential information for managing health and making informed decisions about care and family planning.

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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.