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.

Indications for Testing

• Confirmation of a Miller-Dieker syndrome diagnosis in affected individuals
• Individuals with atypical clinical findings

Testing Methodology

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.

Specimen Requirements

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.

Turnaround Time

8 days

CPT Codes

88230, 88271, 88273, 88291

Forms and Transport & Shipping Information

• Medical Genetics Test Requisition Form
• Medical Genetics Specimen Transport and Shipping Information