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Achondroplasia (FGFR3 gene)

Achondroplasia is the most common form of short-limbed dwarfism, characterized by particular physical traits including short stature, disproportionately short arms and legs, a large head size with a prominent forehead, and characteristic facial features. It occurs as a result of mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3). The FGFR3 gene provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. When there's a mutation in this gene, it leads to an overactive FGFR3 protein, causing the abnormalities in bone growth seen in achondroplasia.

  • Test NameAchondroplasia (FGFR3 gene)
  • Sample TypeBlood
  • Preparations RequiredNo specific preparation is required prior to this test.
  • Report Time4 Weeks

Genetic testing for mutations in the FGFR3 gene is a crucial tool for diagnosing achondroplasia, especially when physical symptoms suggest its presence. The results of this test provide valuable information that can assist clinicians in confirming a diagnosis and planning appropriate care.

Home Sample Collection Process

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Sample Collection by Phlebotomist
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Reporting of the sample at lab
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Frequently Asked Questions

This genetic test is essential for diagnosing achondroplasia. The results can confirm the presence of a specific FGFR3 mutation, which helps medical professionals make an accurate diagnosis, predict the course of the condition, and provide suitable management and care.

No, fasting is not necessary before undergoing this test.

No special preparation is required for the blood draw used to collect the sample for testing. However, it's important to let your healthcare provider know if you are on any medications or have any underlying health conditions.

This test is generally done when physical symptoms or family history suggest the possibility of achondroplasia. It may also be performed prenatally if there's a known risk of achondroplasia in the family.

The test looks for specific mutations in the FGFR3 gene. An abnormal result indicates the presence of a mutation that is known to cause achondroplasia.

This is not a routine test and is only done when there's a specific concern or risk for achondroplasia. It's typically a one-time test, but could be repeated if the results are unclear or if further investigation is needed.

In a normal result, no FGFR3 mutation associated with achondroplasia is detected. However, the absence of a mutation does not completely rule out the condition, as the test might not detect all possible mutations.

There aren't specific precautions for this test. However, it's important to inform your healthcare provider about any medications you're currently taking or any underlying health conditions.

The primary factor affecting the results of the FGFR3 genetic test is the individual's genetic makeup. The presence or absence of an FGFR3 mutation will determine the test result. It's important to note that while this test can detect the most common FGFR3 mutations, it may not detect all possible mutations.

Abnormal test results should be discussed with a geneticist or a specialist in genetic counseling. They can provide guidance on the next steps, which may include further testing, an assessment of the potential impact on the individual and family, and a discussion of options for management and care.

No, medications do not affect the results of this genetic test.

Yes, prenatal testing for achondroplasia can be performed if there's a known risk of the condition in the family. This can be done via chorionic villus sampling (CVS) or amniocentesis.

The test involves a standard blood draw, so risks are minimal but may include slight pain or bruising at the site of the needle insertion. If prenatal testing is being done, CVS and amniocentesis carry their own risks, which should be discussed with the healthcare provider.

Lifestyle does not influence the presence or absence of a FGFR3 mutation. The mutation is present from birth and does not change throughout an individual's life.

Achondroplasia (FGFR3 gene) genetic testing is a powerful tool for diagnosing this form of short-limbed dwarfism. An accurate diagnosis can provide clarity for individuals and families affected by the condition, guiding the way toward appropriate management and care. The information provided by this test, when combined with comprehensive medical advice and support, can greatly assist those living with achondroplasia. The results of the test, whether confirming or ruling out the presence of an FGFR3 mutation, can also provide peace of mind and allow for informed decisions regarding future planning and care.

Achondroplasia (FGFR3 gene)
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