Test Name
Miller-Dieker Syndrome / Lissencephaly deletion 17p13.3*
Test Code
F LIS
Synonyms
LIS1/RARA, del(17)(p13.3)
Associations
Miller-Dieker syndrome, Lissencephaly, Neuronal migration defects
CPT Codes
88273x1, 88274x1, 88271x2, 88291x1
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted Specimen; Specimen exposed to extreme temperature; Anticoagulant or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative
Description
Miller-Dieker syndrome is caused by a deletion on the short arm of chromosome 17, specifically a deletion of the LIS1 gene.
References
- Verloes A et al. (2007). Genetic and clinical aspects of lissencephaly. Rev Neurol (Paris). May;163(5):533-47.
- Kato M, Dobyns WB. (2003). Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. Apr 1;12 Spec No 1:R89-96.
