DiGeorge, Velocardiofacial Syndrome

Overview

  • EPIC Code:
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 14610
Alternate Names
  • VCFS
  • CATCH 22
  • FISH, DiGeorge
  • FISH, DiGeorge, Velocardiofacial Syndrome (VCFS)
Clinical Significance

This test is used to detect microdeletions of chromosome 22q11 associated with DiGeorge, Velocardiofacial (VCFS) 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


Specimen Requirements

5.0 mL Whole Blood in a Green Top Tube - Na Heparin


Alternate Specimen

5 mL amniotic fluid collected in a sterile container 
or
5 mg CVS in culture media 
or
Whole blood collected in: sodium heparin (royal blue-top), or sodium heparin lead-free (tan-top) tube


TransportAndStorage

Ambient


Collection Instructions

 


Minimum Volume

1.0 mL Whole Blood


Neonatal Volumne

Clinical Interpretation

Reference Range:

No Reference Range Established


Test Comments:

 If this test is ordered on blood without routine G-band chromosome analysis, a Tissue Culture charge will be added, (CPT code: 88230). If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication


Methodology:
  • Fluorescence in situ Hybridization (FISH)

Clinical Significance

This test is used to detect microdeletions of chromosome 22q11 associated with DiGeorge, Velocardiofacial (VCFS) syndrome, using FISH (fluorescence in situ hybridization).


Production Schedule

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

6 to 10 days


Coding & Compliance

CPT Coding

88271, 88273