Angelman

Last Modified: 7/18/2016 7:40:16 AM


Client Notes: When ordering with a blood chromosome test this specimen is not needed, unless collecting 1.0 mL or less

Clinical history and reason for referral are required with test order.
Specimen Requirements: 5.0 mL Whole Blood in a Green Top Tube - Na Heparin
Minimum Volume: 2.0 mL Whole Blood
Transport & Storage: Temperature/Stability: Ambient
Rejection Criteria: Frozen
Reference Range: No Reference Range Established
Test Comments: A tissue culture charge (CPT 88230) will be  added, if this test is ordered without routine G-band chromosome analysis. If results are not possible from the submitted specimen,  the test order will be canceled and replaced by code 416 -  Cytogenetics Communication.
Methodology: Fluorescence in situ Hybridization (FISH)
Clinical Significance:

This test is used to detect microdeletions of chromosome 15q11-q13 associated with Angelman syndrome using FISH (Fluorescence in situ hybridization).
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 14 to 21 days
Days Performed: Sunday, Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed: Quest - Chantilly
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: 14608
Alternate Test Names: Angelman Syndrome; Happy Puppet Syndrome
CPT Coding: 88271, 88273

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