Epic Code LAB2111381 DiGeorge/VCFS (22q11.2) by FISH
Test Name Alias
DiGeorge/VCFS (22q11.2) by FISH | 22q11 Deletion Syndrome | Shprintzen Syndrome | Velocardiofacial Syndrome | 979
Interface Order Alias
11395
Quick Collect
AP Ambient
Clinical Information
Fluorescence in situ hybridization (FISH) using DNA probes for DiGeorge, Shprintzen, and Velocardiofacial syndromes to locate a microdeletion in the 22q11.2 region. The use of FISH in metaphase cells can help identify this deletion.
Ordering Instructions
DiGeorge/VCFS (22q11.2) by FISH is a predictive and presymptomatic genetic test.
Submission of an order for any predictive genetic tests and presymptomatic genetic tests, as defined by MCL 333.17020, contained in this catalog constitutes certification to Corewell Health laboratories that the ordering physician understands that written, informed consent is required for these tests and that, by submitting an order for these genetic tests, ordering physician has obtained “Informed Consent” of subject patient as required by any applicable state or federal laws with respect to each test ordered. On occasion, we forward a specimen to an outside reference laboratory. Corewell Health laboratories may request that ordering physician provide such consent to Corewell Health upon a reasonable request.
For an example of an informed consent, click here.
Collection Instructions
Multiple specimen collection types. Submit only one:
Specimen Collection: Chorionic Villus
Container(s): Sterile transport tube with tissue culture media
Preferred volume to collect: 15 mg
Specimen Collection: Products of Conception
Container(s): Sterile transport tube with tissue culture media
Preferred volume to collect: 1 cm3
Specimen Collection: Amniotic fluid
Container(s): 2 Sterile screw-capped conical tubes
Preferred volume to collect: 30.0 mL
Minimum volume to collect: 20.0 mL
Specimen Collection: Whole blood
Container(s): Green top (Sodium heparin)
Preferred volume to collect: 4.0 mL
Minimum volume to collect: 1.0 mL
Specimen Collection: Skin biopsy
Container(s): Sterile transport tube with tissue culture media
Preferred volume to collect: 5.5 mm
Minimum volume to collect: 2.50 mm
Specimen Collection: Surgery/Autopsy biopsy
Container(s): Sterile transport tube with tissue culture media
Preferred volume to collect: 1 cm3
Processing Instructions (Laboratory, Outpatient or Off-site collection)
Spin: No
Aliquot: No
Transport Temperature: Ambient
If ambient temperature exceeds 80°F or is below 40°F, please send in an insulated container. All samples should be directed to the laboratory as soon as possible.
Specimen Stability
Ambient: 3 days (beyond 3 days, specimen viability will be detemined by Cytogenetics Lab)
Laboratory Retention: primary specimens 4 weeks; frozen pellets retained greater than 1 year
Test Frequency
Test Set Up: Monday – Friday 8:00 am – 5:00 pm, Saturday 8:00 am – 3:00 pm.
Technologist on call for Sunday set up.
Final report: 3 – 5 days.
Reference Range
An interpretative report will be provided.
Performing Department
Cytogenetics
Performing Department Laboratory Location
Corewell Health Advanced Technology Laboratory (ATL), Grand Rapids, MI
Methodology
Performed by fluorescence in situ hybridization (FISH). This test was developed and its performance characteristics determined by Spectrum Health Cytogenetics. It has not been cleared or approved by the U.S. FDA. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes.
CPT
88271 x2, 88273
CDM Code
3108827102, 3108827301
Epic Test ID
1230100608
LOINC
Specimen Type: 66746-9
Indication Provided: 42349-1
Result: in process
Interpretation: 59050-5
Comments: 69965-2
Reviewed Date
4/28/2023