HRAS mutation analysis is a laboratory test designed to detect mutations in the HRAS gene, which is associated with a variety of diseases including Costello syndrome, a rare genetic disorder that affects many parts of the body. The test involves DNA sequencing of the gene to identify any mutations or alterations that may cause disease.
HRAS belongs to a class of genes known as oncogenes, which, when mutated, have the potential to cause normal cells to become cancerous. In Costello syndrome, HRAS mutations are responsible for most cases, leading to a wide range of symptoms that affect growth, development, and the nervous system.
The HRAS mutation analysis test can provide valuable information for diagnosis, management, and genetic counseling for individuals and families affected by conditions related to HRAS mutations.
Test NameHRAS
Sample TypeTissue
Preparations RequiredNone
Report Time7 Days
What is HRAS mutation analysis?
HRAS mutation analysis is a laboratory test that detects mutations in the HRAS gene, which can cause diseases like Costello syndrome and some types of cancer.
Why is HRAS mutation analysis performed?
HRAS mutation analysis is performed to aid in the diagnosis of diseases associated with HRAS mutations, to guide treatment decisions, and to provide information for genetic counseling.
Home Sample Collection Process
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Book your convenient slot
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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
HRAS mutation analysis is performed on a blood or tissue sample. The DNA is extracted from the sample and the HRAS gene is sequenced to identify any mutations.
There are minimal risks associated with providing a blood or tissue sample for HRAS mutation analysis. You may experience slight discomfort or bruising at the site of the needle stick if a blood sample is taken.
No special preparation is needed for HRAS mutation analysis.
The turnaround time for HRAS mutation analysis is typically 1-2 weeks, but this can vary depending on the laboratory.
A positive result means a mutation in the HRAS gene has been identified. This can help confirm a diagnosis and guide treatment decisions.
A negative result means that no mutations were found in the HRAS gene in the sample tested. However, it does not rule out all genetic diseases or conditions.
Certain HRAS mutations are associated with an increased risk of specific types of cancer. If a HRAS mutation is identified, your healthcare provider can discuss what this means for your individual cancer risk.
The results of HRAS mutation analysis can guide treatment decisions, especially in cancer, as some treatments are specifically designed to target cells with certain genetic mutations.
Coverage for HRAS mutation analysis depends on your insurance plan. It's recommended to check with your insurance provider for details.
If you are pregnant and have concerns about genetic diseases, discuss this with your healthcare provider. They can advise you on appropriate tests during pregnancy.
Yes, HRAS mutation analysis can be done on a child if there is a suspicion of a disease associated with HRAS mutations.
Yes, the results of HRAS mutation analysis are confidential and are usually only shared with your healthcare provider and any other healthcare professionals involved in your care.
Costello syndrome is a rare genetic disorder caused by mutations in the HRAS gene. It affects many parts of the body and can cause a wide range of symptoms, including developmental delay, heart defects, distinctive facial features, and an increased risk of certain types of cancer.
Most cases of Costello syndrome are caused by mutations in the HRAS gene. If a person has symptoms suggestive of Costello syndrome, HRAS mutation analysis can confirm the diagnosis.
The specific mutation in the HRAS gene can sometimes provide some information about the potential severity of Costello syndrome, but it cannot predict the exact course of the disease.
In addition to Costello syndrome, mutations in the HRAS gene can increase the risk of certain types of cancer, including bladder cancer, thyroid cancer, and certain types of leukemia.
HRAS mutations are rare. The prevalence of conditions caused by HRAS mutations, like Costello syndrome, is estimated to be about 1 in 300,000 to 1 in 1.25 million people.
If your HRAS mutation analysis result is positive, your healthcare provider will guide you on the next steps. This may involve further tests, treatment planning, or genetic counseling.
