|
FISH ANALYSIS:
Miller-Dieker Syndrome
Miller–Dieker syndrome is characterized by mental retardation, lissencephaly, and distinct facial features. In nearly all cases, Miller-Dieker syndrome is caused by deletions of chromosome 17p13.3.
- Confirmation of a Miller-Dieker syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
FISH analysis for Miller-Dieker syndrome is performed on metaphase chromosomes to detect deletions of chromosome 17p13.3. If not previously performed, chromosomal analysis is recommended in addition to the FISH study.
Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.
8 days
88230, 88271, 88273, 88291
> Medical Genetics Test Requisition Form
> Medical Genetics Specimen Transport and Shipping Information
|
