Angelman Syndrome
| Order Code: | AS |
| Epic Lab Code: | LAB2443 |
| Order Form: | A-1a Molecular Pathology/Diagnostics or Epic Req |
Molecular Pathology
6004 BT GH
384-9568
6004 BT GH
384-9568
Specimen:
Whole Blood
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
Minimum:
Adults - 3 mL whole blood in lavender top tube (EDTA)
Children - 2 mL whole blood in lavender top tube (EDTA)
Testing on smaller volumes than those requested will be attempted.
However, in some cases, small blood volumes may compromise the ability
to perform testing.
Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight,
weekends and holidays.
Testing Schedule:
Weekly
Analytic Time:
21 days
Reference Range:
Angelman syndrome - absent maternal 15q12
Methodology:
Southern Blot (Methylation detection)
CPT Code:
83890, 83892, 83894, 83896, 83897, 83912
See also:
Chromosomal Analysis, Peripheral Blood, Cord Blood
Fluorescence In-Situ Hybridization (FISH-Microdeletion), Peripheral Blood, Bone Marrow, Fibroblasts, Other Tissue
Prader-Willi Syndrome, Whole Blood
Chromosomal Analysis, Peripheral Blood, Cord Blood
Fluorescence In-Situ Hybridization (FISH-Microdeletion), Peripheral Blood, Bone Marrow, Fibroblasts, Other Tissue
Prader-Willi Syndrome, Whole Blood