The ATM gene, or Ataxia Telangiectasia Mutated gene, is situated on chromosome 11 and has a critical role in the way cells respond to DNA damage, thereby playing a role in protecting cells from developing into cancer. The Fluorescence In Situ Hybridization (FISH) test for ATM deletion is used to identify if there is a deletion of the ATM gene. A deletion of this gene can be associated with various disorders including Ataxia-telangiectasia (A-T), and an increased risk of several types of cancer.
Ataxia-telangiectasia is a rare genetic disorder characterized by progressive difficulty with coordinating movements (ataxia), dilated blood vessels (telangiectasia), and an increased risk of developing cancer, particularly lymphoma and leukemia. On the other hand, the deletion or mutation of the ATM gene has also been linked to a higher susceptibility to breast, pancreatic, and other cancers.
Test NameFISH for ATM Deletion
Sample TypeBlood or bone marrow
Preparations RequiredNo special preparation is needed for this test. However, it is important to follow any instructions given by the doctor or the laboratory.
Report Time5 days
What is the purpose of the FISH test for ATM deletion?
This test is used to detect the deletion of the ATM gene, which can be associated with Ataxia- telangiectasia (A-T) and an increased risk of several types of cancer.
Who should consider undergoing this test?
Individuals with symptoms of Ataxia-telangiectasia, a family history of A-T, or a known ATM mutation in the family should consider this test. Additionally, individuals with a family history of breast, pancreatic, or other cancers linked to the ATM gene might benefit from this test.
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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Download Reports
Frequently Asked Questions
In this test, a sample of blood or tissue is collected from the patient. Using fluorescent probes that bind to the region of the ATM gene, scientists can visualize and assess if there is a deletion of this gene.
Yes, FISH is a highly accurate technique for identifying chromosomal abnormalities, including deletions.
A positive result indicates a deletion in the ATM gene, which may suggest a diagnosis of Ataxia- telangiectasia or an increased risk for certain cancers.
Yes, this test can be performed prenatally using samples obtained through amniocentesis or chorionic villus sampling.
There is no cure for Ataxia-telangiectasia. The treatment focuses on managing the symptoms and preventing complications. For individuals with an increased risk of cancer, regular screening and surveillance are recommended.
Yes, genetic counseling is highly recommended for individuals undergoing this test to understand the implications of the results.
Family members, especially siblings, of individuals with an ATM gene deletion should consider testing, as they may also be carriers or affected by A-T or cancer susceptibility.
The results can be used to confirm a diagnosis, to make decisions regarding treatment or management, and to make informed family planning decisions.
Yes, there are support groups and resources for individuals affected by Ataxia-telangiectasia and those at an increased risk for cancer due to ATM gene deletion.
If you have an ATM gene deletion, it is advisable to consult a genetic counselor, an oncologist for cancer risk, and a neurologist for Ataxia-telangiectasia.
Yes, preventive screening for breast cancer and other cancers is recommended for individuals with an ATM gene deletion.
A healthy lifestyle including a balanced diet, regular exercise, and avoiding tobacco and excessive alcohol can help manage or prevent complications associated with ATM gene deletion.
Long-term implications may include progressive neurological impairment in cases of Ataxia- telangiectasia and an increased risk of developing certain types of cancer.
FISH for ATM deletion is an essential test for individuals with suspected Ataxia-telangiectasia or for those who have a family history of ATM-associated cancers. The test results provide valuable information that is vital for disease management, cancer prevention, and making informed decisions regarding future planning. It is also important to consider genetic counseling to comprehend the ramifications of the test results and to receive guidance on managing or potentially mitigating the risks associated with ATM gene deletion. A multidisciplinary approach involving genetic counselors, oncologists, and neurologists will ensure comprehensive care for individuals with ATM gene deletion.
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