Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C

Genetic Testing

Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C

KSh 24,000.00 Regular price
KSh 20,880.00 Current price
-13%

The Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C is crucial for diagnosing genetic conditions related to bone growth, providing insights into treatment options and family planning. At an affordable price of KSh 24000, this test is essential for individuals with symptoms or family history of achondroplasia.

What Is the Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C?

The Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C is a specialized genetic test that plays a vital role in understanding achondroplasia, a common form of skeletal dysplasia. This analysis identifies specific mutations in the FGFR3 gene that are associated with this condition, providing essential information for diagnosis and management.

The sample type required for this test is peripheral blood, collected in an EDTA Vacutainer (2ml). The expected turnaround time for results is 10-12 days.

Don’t wait any longer; take charge of your health today with the Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C!

Who Should Consider This Test?

This test is recommended for:

  • Individuals exhibiting symptoms of achondroplasia, such as disproportionate short stature.
  • Those with a family history of the condition.
  • Parents planning for children, particularly if there is a known risk of genetic disorders.
  • Individuals seeking clarity on their genetic health prior to surgery or travel.

What Does the Test Detect or Measure?

This test detects mutations in the FGFR3 gene, specifically the G1138A and G1138C variants. These mutations are known to affect bone growth and development, leading to the characteristic features of achondroplasia.

Test Preparation

The Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) requires a Doctor’s prescription. Please note that a prescription is not applicable for individuals undergoing surgery, those who are pregnant, or people planning to travel abroad.

What the Results May Show

Results from the Achondroplasia Mutation Analysis will indicate the presence or absence of the G1138A and G1138C mutations. A positive result confirms the diagnosis of achondroplasia, while a negative result may suggest further investigation if symptoms persist. It is essential to discuss results with a healthcare provider for comprehensive understanding and guidance.

Benefits or Clinical Value

The Achondroplasia Mutation Analysis offers several benefits:

  • Provides a definitive diagnosis of achondroplasia.
  • Helps guide treatment options and management strategies.
  • Informs family planning decisions for prospective parents.
  • Enhances understanding of potential health implications associated with the condition.

Pricing

Test Name Current Price Regular Price
Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C KSh 20,880.00 KSh 24,000.00

Book the Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C

Contact Biopassion Diagnostics to confirm sample requirements and schedule this test.

SKU: bacadc62d6e6 | Category: Genetic Testing