Fluorescence In Situ Hybridization (FISH) for Monosomy 1 is a diagnostic test that is used to detect the loss of one copy of chromosome 1 in cells. Monosomy 1 is a chromosomal abnormality where there is only one copy of chromosome 1, instead of the normal two. This can lead to various clinical manifestations and is associated with several disorders. The FISH technique is used to visualize the chromosomes within the cells by using fluorescent probes that bind to specific regions of the chromosome of interest.
Chromosome 1 is the largest human chromosome and contains about 8% of the total DNA in cells. It plays a critical role in human development and is associated with various genes. The loss of genetic material from chromosome 1 can affect the normal functioning of the genes and lead to developmental issues or disorders. Monosomy 1 can occur in a variety of conditions, including certain cancers and developmental disorders.
FISH for Monosomy 1 involves taking a sample of blood, bone marrow, or tissue, which is then fixed onto slides. The slides are treated with chemicals to denature the DNA, and then fluorescent probes specific for chromosome 1 are added. The probes bind to chromosome 1, and the slides are viewed under a fluorescence microscope. In a normal cell, two fluorescent signals are expected for chromosome 1. However, in cells with Monosomy 1, only one signal will be observed.
Monosomy 1 has been associated with various clinical conditions. In hematological malignancies, such as myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), monosomy 1 or deletion of parts of chromosome 1 is associated with a poorer prognosis. It’s also seen in various solid tumors.
In developmental disorders, monosomy 1 can be associated with intellectual disabilities, growth retardation, and congenital abnormalities. However, the clinical presentation can vary widely depending on the extent of the chromosomal abnormality and the genes involved.
Test NameFISH for Monosomy 1
Sample TypeBone Marrow
Preparations RequiredNo special preparation is needed for this test.
Report Time9 days
What does it mean if the FISH for Monosomy 1 test is positive?
If the test is positive, it means that there is only one copy of chromosome 1 in the cells tested. This is abnormal and is associated with various disorders.
What kind of sample is needed for this test?
Blood, bone marrow, or tissue samples may be used for the FISH for Monosomy 1 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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Frequently Asked Questions
Chromosome 1 is the largest chromosome and contains a large number of genes that are critical for normal development and functioning.
In cancers, especially hematological malignancies, FISH for Monosomy 1 can be used to diagnose the disease, predict its course, and monitor response to treatment.
The risks are minimal and similar to those associated with a blood draw. These may include discomfort, bruising, or infection at the needle site.
No special preparation is needed for the FISH for Monosomy 1 test.
Yes, the FISH for Monosomy 1 test can be performed on individuals of any age, including children.
Monosomy 1 refers to the loss of the entire chromosome 1, while deletion 1q or 1p refers to the loss of the long arm or short arm of chromosome 1 respectively.
Monosomy 1 is usually not inherited but occurs spontaneously. However, in rare cases, it can be inherited if a parent carries a balanced translocation or other chromosomal rearrangement.
The treatment for Monosomy 1 depends on the underlying disorder that it is associated with. In cases of cancer, chemotherapy, radiation therapy, or stem cell transplant may be options. For developmental disorders, management is usually supportive.
Yes, Monosomy 1 can be detected prenatally through chorionic villus sampling (CVS) or amniocentesis.
FISH for Monosomy 1 is a powerful diagnostic tool for detecting chromosomal abnormalities involving chromosome 1. It is essential in the management of various cancers and can be used in the assessment of developmental disorders. Consultation with a healthcare provider is crucial for understanding the implications of Monosomy 1 and the appropriate steps for management and treatment.
