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Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C Test

550 د.إ

-77%

The “Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C Test” is a specialized genetic test designed to detect specific mutations within the FGFR3 gene, known to be the primary cause of achondroplasia. Achondroplasia is the most common form of dwarfism, characterized by a particular type of short stature, disproportionately short limbs, and other skeletal abnormalities. The mutations of interest, G1138A and G1138C, occur in the FGFR3 gene and are pivotal in diagnosing this genetic condition accurately.

This test involves analyzing the patient’s DNA to identify the presence of the G1138A or G1138C mutations in the FGFR3 gene. Early and precise detection of these mutations can aid in the diagnosis, management, and understanding of the condition, facilitating personalized care and interventions for individuals with achondroplasia.

Conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities, the test is priced at 550 AED. This cost includes the comprehensive analysis required to identify the specific mutations, providing invaluable information for affected individuals and their families. DNA Labs UAE employs state-of-the-art technology and adheres to stringent quality standards to ensure accurate and reliable test results.

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Achondroplasia Mutation Analysis FGFR3 gene G1138A G1138C Test

Test Name: Achondroplasia Mutation Analysis FGFR3 gene G1138A G1138C Test

Components: EDTA Vacutainer (2ml)

Price: 550.0 AED

Sample Condition: Peripheral blood

Report Delivery: 10-12 days

Method: Sanger Sequencing

Test type: Genetics

Doctor: Gynecologist

Test Department:

Pre Test Information: Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) 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 characterized by short stature and abnormal bone growth. It is caused by mutations in the FGFR3 gene, specifically the G1138A and G1138C mutations. The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is involved in the regulation of bone growth and development. Mutations in the FGFR3 gene result in a hyperactive protein that interferes with normal bone growth, leading to the characteristic features of achondroplasia.

The G1138A mutation is a specific change in the DNA sequence of the FGFR3 gene. It involves a substitution of the nucleotide guanine (G) with adenine (A) at position 1138. This mutation leads to a change in the amino acid sequence of the FGFR3 protein, resulting in its hyperactivation. Similarly, the G1138C mutation involves a substitution of guanine (G) with cytosine (C) at position 1138. This mutation also leads to a change in the amino acid sequence of the FGFR3 protein and its hyperactivation. Both the G1138A and G1138C mutations are associated with achondroplasia and have similar effects on bone growth and development.

These mutations are inherited in an autosomal dominant manner, meaning that a person with one copy of the mutated gene will have the disorder. Mutation analysis of the FGFR3 gene, specifically looking for the G1138A and G1138C mutations, can be performed to confirm a diagnosis of achondroplasia. This analysis involves sequencing the DNA of the FGFR3 gene to identify any mutations present.

Overall, the G1138A and G1138C mutations in the FGFR3 gene are important genetic changes associated with achondroplasia. Mutation analysis of these specific mutations can help in diagnosing the disorder and understanding its underlying genetic basis.

Test Name Achondroplasia Mutation Analysis FGFR3 gene G1138A G1138C Test
Components EDTA Vacutainer (2ml)
Price 550.0 AED
Sample Condition Peipheral blood
Report Delivery 10-12 days
Method Sanger Sequencing
Test type Genetics
Doctor Gynecologist
Test Department:
Pre Test Information Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) 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 characterized by short stature and abnormal bone growth. It is caused by mutations in the FGFR3 gene, specifically the G1138A and G1138C mutations.

The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is involved in the regulation of bone growth and development. Mutations in the FGFR3 gene result in a hyperactive protein that interferes with normal bone growth, leading to the characteristic features of achondroplasia.

The G1138A mutation is a specific change in the DNA sequence of the FGFR3 gene. It involves a substitution of the nucleotide guanine (G) with adenine (A) at position 1138. This mutation leads to a change in the amino acid sequence of the FGFR3 protein, resulting in its hyperactivation.

Similarly, the G1138C mutation involves a substitution of guanine (G) with cytosine (C) at position 1138. This mutation also leads to a change in the amino acid sequence of the FGFR3 protein and its hyperactivation.

Both the G1138A and G1138C mutations are associated with achondroplasia and have similar effects on bone growth and development. These mutations are inherited in an autosomal dominant manner, meaning that a person with one copy of the mutated gene will have the disorder.

Mutation analysis of the FGFR3 gene, specifically looking for the G1138A and G1138C mutations, can be performed to confirm a diagnosis of achondroplasia. This analysis involves sequencing the DNA of the FGFR3 gene to identify any mutations present.

Overall, the G1138A and G1138C mutations in the FGFR3 gene are important genetic changes associated with achondroplasia. Mutation analysis of these specific mutations can help in diagnosing the disorder and understanding its underlying genetic basis.