FISH for Angelman Prader Willi Syndrome (Microdeletion 15q11-13)
Angelman Syndrome and Prader-Willi Syndrome are distinct genetic disorders that result from the absence of certain genes in the region 15q11-13 of chromosome 15. Fluorescence In Situ Hybridization, commonly known as FISH, for Angelman Prader Willi Syndrome is a specialized genetic test aimed at detecting microdeletions in this particular region of chromosome 15. The absence or malfunction of genes in this region leads to a variety of developmental and neurological issues that are characteristic of Angelman Syndrome and Prader-Willi Syndrome.
Angelman Syndrome is characterized by intellectual disability, problems with movement and balance, and a happy demeanor with frequent laughter. Prader-Willi Syndrome also involves intellectual disability and developmental problems, but is additionally associated with chronic feelings of hunger that often lead to obesity, and low muscle tone. Both syndromes are the result of the loss of function of genes in the same chromosomal region, but the manifestation differs due to the parent from whom the affected chromosome is inherited.
Test NameFISH for Angelman Prader Willi Syndrome (Microdeletion 15q11-13)
Sample TypeBlood
Preparations RequiredNo special preparations are needed for this test.
Report Time7 days
Why is the FISH for Angelman Prader Willi Syndrome test done?
Thetest is done to detect microdeletions in chromosome 15, which are responsible for Angelman Syndrome and Prader-Willi Syndrome. Early detection can aid in better management and intervention for these genetic disorders.
Who should consider this test?
Individuals with developmental delays, intellectual disabilities, or other symptoms suggestive of Angelman Syndrome or Prader-Willi Syndrome, as well as their family members, should consider 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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Frequently Asked Questions
A blood sample is drawn from the patient, and the DNA is analyzed using fluorescent probes that bind to the specific region of chromosome 15. The fluorescence is visualized to detect the presence or absence of the relevant genetic material.
Yes, the FISH test is highly accurate for detecting chromosomal microdeletions, including those associated with Angelman Syndrome and Prader-Willi Syndrome.
A positive result indicates the presence of a microdeletion in the 15q11-13 region of chromosome 15, which is consistent with a diagnosis of either Angelman Syndrome or Prader-Willi Syndrome.
Yes, the FISH test can be performed prenatally using samples obtained through amniocentesis or chorionic villus sampling.
There is no cure for these syndromes, but various interventions can help manage the symptoms. These might include physical therapy, behavioral therapy, and medications.
A diagnosis can help in understanding the cause of the symptoms, and it enables the doctor and family to devise an appropriate management plan. It is also valuable information for family planning.
Genetic counseling is recommended to understand the implications for family members. In some cases, testing of family members may be advised.
These syndromes are genetic disorders and cannot be prevented. However, genetic counseling can help families with a history of these disorders make informed decisions regarding family planning.
Both syndromes are caused by a deletion in chromosome 15. Angelman Syndrome is usually inherited from the mother, while Prader-Willi Syndrome is usually inherited from the father.
In case of a positive result, it is important to consult a geneticist, a pediatrician, and a neurologist for comprehensive care.
Yes, genetic counseling is strongly recommended both before and after the test to help understand the results and implications.
Coverage for this test varies by insurance provider and plan. It is advisable to check with your insurance company beforehand.
Yes, there are support groups and resources available for individuals and families affected by Angelman Syndrome and Prader-Willi Syndrome. Your doctor or genetic counselor can provide you with information on these resources.
The FISH for Angelman Prader Willi Syndrome is a vital test for detecting microdeletions in chromosome 15 and can bring clarity to the diagnosis of these syndromes. Understanding the genetic basis of these disorders can pave the way for better management and informed decisions regarding family planning. As these syndromes have a significant impact on an individual's life and their family, it is crucial to work closely with specialists and avail of the support resources available.
FISH for Angelman Prader Willi Syndrome (Microdeletion 15q11-13)
