Angelman

Overview

  • EPIC Code:
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 14608
Alternate Names
  • Angelman Syndrome
  • Happy Puppet Syndrome
Clinical Significance

This test is used to detect microdeletions of chromosome 15q11-q13 associated with Angelman syndrome using FISH (Fluorescence in situ hybridization).


Specimen Collection & Preparation

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

Alternate Specimen

TransportAndStorage

Ambient

Collection Instructions

Clinical Interpretation

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).


Production Schedule

Sites Performed
  • Quest - Chantilly
Days Performed
Sunday
Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Departments
  • Sendouts - Genetics
Turn Around Time

14 to 21 days


Coding & Compliance

CPT Coding

88271, 88273