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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

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.

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

Spectrum 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

88273, 88271 x2

CDM Code

4148273, 4148271

Epic Test ID

1230100608

LOINC

Specimen Type: 66746-9

Indication Provided: 42349-1

Result: in process

Interpretation: 59050-5

Comments: 69965-2

Beaker LOINC

LOINC Not available

Reviewed Date

10/22/2021

Beaker Names

Beaker Procedure Name: DIGEORGE/VCFS (22Q11.2) BY FISH
Beaker Display Name: DiGeorge/VCFS (22q11.2) by FISH
BEAKER TEST NAME: DIGEORGE/VCFS (22Q11.2) BY FISH
BEAKER TEST REPORT NAME: DiGeorge/VCFS (22q11.2) by FISH

Beaker Synonyms

No synonym on file

Beaker Collection and Specimen Handling

BEAKER COLLECTION: AP Ambient

Beaker Location, Container and Temperature

LC CYTOGENETICS: 6 ML NA HEPARIN TUBE A (Preferred)-Ambient
LC CYTOGENETICS: CYTOGENETICS MEDIA (Acceptable)-Ambient
LC CYTOGENETICS: MISCELLANEOUS (Acceptable)-Ambient
LC CYTOGENETICS: STERILE CONTAINER 20 ML (Acceptable)-Ambient
LC CYTOGENETICS: STERILE CONTAINER A (Acceptable)-Ambient