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FISH for Miller-Dieker Syndrome (Microdeletion 17p13.3)

FISH for Miller-Dieker Syndrome (Microdeletion 17p13.3)

Miller-Dieker Syndrome (MDS) is a rare genetic disorder characterized by lissencephaly (smooth brain), microcephaly (small head size), facial abnormalities, and severe intellectual disability. MDS is associated with a deletion in a region of chromosome 17 known as 17p13.3. The Fluorescence In Situ Hybridization (FISH) test is used to detect this microdeletion and confirm a diagnosis of Miller-Dieker Syndrome.

The 17p13.3 region contains several genes, including LIS1 and YWHAE, which are critical for normal brain development. A microdeletion in this area results in the absence of these genes and leads to the symptoms characteristic of MDS.

FISH is a molecular cytogenetic technique that uses fluorescent probes to bind to specific DNA sequences. In the case of MDS, probes are designed to attach to the 17p13.3 region. If the fluorescent signal is absent or reduced, it indicates a deletion in the 17p13.3 region.

  • Test NameFISH for Miller-Dieker Syndrome (Microdeletion 17p13.3)
  • Sample TypeBlood sample
  • Preparations RequiredNo special preparation is needed for this test.
  • Report Time8 days
What is Miller-Dieker Syndrome (MDS)?

Miller-Dieker Syndrome is a genetic disorder characterized by severe brain malformations, intellectual disability, seizures, and distinctive facial features. The syndrome is caused by a deletion of genes in the 17p13.3 region of chromosome 17.

How is FISH for Miller-Dieker Syndrome performed?

A blood sample or amniotic fluid is collected from the patient. The DNA is then denatured, and fluorescently labeled probes specific to the 17p13.3 region are added. These probes will bind to complementary DNA sequences. Under a fluorescence microscope, the absence or reduction of the fluorescent signal in the specific region indicates the deletion associated with MDS.

Home Sample Collection Process

1
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Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
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Frequently Asked Questions

This test should be performed in individuals who have clinical features consistent with MDS, such as lissencephaly, microcephaly, seizures, and facial abnormalities. It can also be performed prenatally if there is a suspicion of MDS based on ultrasound findings.

A positive result indicates the presence of a microdeletion in the 17p13.3 region, confirming the diagnosis of Miller-Dieker Syndrome.

No special preparation is needed. However, it is good to follow any instructions provided by your healthcare professional.

MDS is a severe disorder that requires comprehensive medical care. Early intervention programs that include physical, occupational, and speech therapy can be beneficial. Anti-seizure medications may also be needed.

Yes, a confirmed diagnosis of MDS will guide healthcare professionals in providing appropriate care and support for the affected individual and their family. There is no cure for MDS, but managing symptoms is essential.

There is minimal risk associated with the blood draw. However, if amniotic fluid is sampled for prenatal testing, there is a risk of miscarriage, infection, or leaking amniotic fluid.

MDS can be inherited from a parent carrying a chromosomal rearrangement or occur as a de novo deletion.

Several organizations offer support and resources for individuals and families affected by Miller-Dieker Syndrome. Genetic counselors can provide valuable information and guidance, while support groups can offer a sense of community and understanding.

The FISH for MDS is essential for the early diagnosis and management of individuals affected by this syndrome. With the advent of new genetic technologies, understanding the molecular basis of MDS is continually evolving. Researchers are also looking at potential therapies that may correct or mitigate the consequences of the genetic abnormalities. Though MDS is a severe and complex condition, early diagnosis through FISH testing and other emerging technologies is critical for improving the quality of life of affected individuals.

FISH for Miller-Dieker Syndrome is a crucial diagnostic tool that aids in the confirmation of a clinical diagnosis of MDS. It is critical for early intervention and management. If you or a family member have been diagnosed with or are suspected to have Miller-Dieker Syndrome, it is important to consult with a genetic counselor and healthcare provider to fully understand the condition and the options available for management and support.

FISH for Miller - Dieker Syndrome (Microdeletion 17p13.3)
₹ 10000
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