Casandra
Casandra Test Code QD34621Version 1 (DRAFT)
Performing Lab
Lab Quest DiagnosticsLab Test ID 14612
FISH, Miller-Dieker
Clinical Use
Order TestUse
FISH Analysis for Miller‑Dieker Syndrome (a microdeletion syndrome involving chromosome 17p13.3, including the LIS1 gene and, in some patients, YWHAE) is indicated for patients with clinical findings such as lissencephaly, seizures, developmental delay, and characteristic facial features, as well as for isolated lissencephaly or subcortical band heterotopia.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
Chromosomal / Cytogenetics
Biomarkers
Dual‑color fluorescence in situ hybridization performed on metaphase and interphase cells using probes for the LIS1 gene at 17p13.3 and a chromosome 17 control, typically analyzing ~10 metaphase and ~20 interphase cells.
Unknown CNV
Copy Number RegionCopy Number • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
3-5 mL for children and adults; 1-2 mL for newborns
Minimum Volume
1 mL for newborns; 2 mL for children and adults
Container
sodium heparin (green) tube
Causes for Rejection
Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 24 hours |
| Refrigerated | 72 hours |