What are other Names for this Test? (Equivalent Terms)
- GTPase NRas Mutation Analysis Test
- N-Ras Protein Part 4 Mutation Analysis Test
- V-Tas Neuroblastoma RAS Viral Oncogene Homolog Mutation Analysis Test
What is NRAS Mutation Analysis Test? (Background Information)
- NRAS mutation refers to an alteration in the NRAS gene. It is associated with cancers of the immune cells, lungs, brain, skin, and others
- The NRAS gene gives instructions for the N-Ras protein. N-Ras is responsible for helping cells communicate with each other
- N-Ras is most important for its role in providing cells information to grow and divide. It is found within cells of the immune system (leukocytes, lymphocytes, etc.), brain (neurons), and other tissues. N-Ras responds to signals sent from other cells, and cause changes within its cell that result in growth and division
- Signals from other cells are sent in the form of chemical compounds, such as proteins and small molecules. These compounds are then recognized by N-Ras, which sits on the surfaces of cells.
- When N-Ras receives a signal sent from other cells, it relays the message to the genetic machinery within the cell. This results in changes in the patterns of conversion of DNA into protein, which causes cells to grow and divide
- An abnormality of the NRAS gene may result in an N-Ras protein that is defective. The mutated N-Ras is capable of causing growth and division without needing a signal from other cells. Uncontrolled growth is generally characteristic of a cancerous cell
- The NRAS Mutation Analysis Test is a genetic test that detects abnormalities in the NRAS gene. It is used to diagnose cancers of the immune cells, lungs, brain, skin, and others
The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:
- In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
- Immunohistochemistry (IHC)
- Next-generation sequencing (NGS)
- Polymerase chain reaction (PCR)
- Comparative genomic hybridization (CGH)
- Karyotyping including spectral karyotyping
- mRNA analysis
- Tissue microarrays (TMAs)
- Southern blot test
- Northern blot test
- Western blot test
- Eastern blot test
The methodology used for the test may vary from one laboratory to another.
Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.
What are the Clinical Indications for performing the NRAS Mutation Analysis Test?
Following are the clinical indications for performing the NRAS Mutation Analysis Test:
- Bone pain
- Lethargy and fatigue
- Shortness of breath
- Pale skin
- Frequent infections
- Easy bruising
- Unusual bleeding, such as frequent nosebleeds and bleeding from the gums
- Coughing-up blood
- Breathing difficulties
- Loss of appetite
- Recurring infections
- Bone pain
- Swelling of the face, arms or neck
- Headaches, dizziness or limbs that become weak or numb
- Lumps in the neck or collar bone region
In general, the molecular genetic testing is undertaken in the following situations:
- To assist (and in some cases, confirm) the initial diagnosis
- If there is a family history of the medical disorder/condition
- To distinguish other conditions that have similar features (signs and symptoms)
- To help in determining treatment options
- To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)
How is the Specimen Collected for NRAS Mutation Analysis Test?
Following is the specimen collection process for NRAS Mutation Analysis Test:
The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.
- Sample on which the test is performed may include:
- Peripheral blood in individuals showing signs and symptoms suspected of TTT
- In case of expectant mothers, prenatal testing through amniotic fluid and chorionic villi sampling
- Fresh tumor tissue during biopsy: In some cases, the testing can be performed on tumor tissue also
- Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
- Unstained tissue slides
- Process of obtaining the sample: As outlined by the laboratory testing facility
- Preparation required: As outlined by the laboratory testing facility
- In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
- Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
- Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
- Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time
Cost of NRAS Mutation Analysis Test:
- The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
- In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)
What is the Significance of the NRAS Mutation Analysis Test Result?
A mutation in the NRAS gene indicates a positive result for the NRAS Mutation Analysis Test. This may point to a diagnosis of any of the following:
- Autoimmune lymphoproliferative syndrome
- Acute myeloid leukemia (AML)
- Epidermal nevus
- Giant congenital melanocytic nevus
- Lung cancer
- Noonan syndrome
The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.
Additional and Relevant Useful Information:
- MYD88 mutation most notably occurs in a location of the chromosome called 1p13.2 i.e., the short arm (p) of chromosome 1 in position 13.2
- Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test
Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider, the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.
What are some Useful Resources for Additional Information?
The following DoveMed website link is a useful resource for additional information:
Please visit our Laboratory Procedures Center for more physician-approved health information:
References and Information Sources used for the Article:
https://ghr.nlm.nih.gov/primer/testing/genetictesting (accessed on 05/10/2017)
https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 05/10/2017)
http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 05/10/2017)
http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 05/10/2017)
Acute myelogenous leukemia (AML) Symptoms - Mayo Clinic. (2015, September 12). Retrieved from http://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/basics/symptoms/con-20043431
Lung Cancer Symptoms & Signs | CTCA. (n.d.). Retrieved from http://www.cancercenter.com/lung-cancer/symptoms/
NRAS gene - Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/NRAS#location
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