MPLNET.com » Test Menu » Miller-Dieker Syndrome / Lissencephaly deletion 17p13.3 by FISH* Client Login | Email | Phone: 1.800.932.2943

Miller-Dieker Syndrome / Lissencephaly deletion 17p13.3 by FISH*

Test Code

F LIS*

Test Synonyms

LIS1/RARA, del(17)(p13.3)

Associations

Miller-Dieker syndrome, Lissencephaly, Neuronal migration defects

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood, sodium heparin

Specimen Stability
Peripheral blood stable at 4-25°C for 72 hours
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). Ship on Saturday for Monday delivery only if sample is protected from extreme temperature

Causes for Rejection

Clotted Specimen; Specimen exposed to extreme temperature; Anticoagulant or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative

Reference Range

See report

It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.

Description

Miller-Dieker syndrome is caused by a deletion on the short arm of chromosome 17, specifically a deletion of the LIS1 gene.

References
  1. Verloes A et al. (2007). Genetic and clinical aspects of lissencephaly. Rev Neurol (Paris). May;163(5):533-47.
  2. Kato M, Dobyns WB. (2003). Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. Apr 1;12 Spec No 1:R89-96.