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Epic Code LAB2111381 DiGeorge/VCFS (22q11.2) by FISH

Important Note

Please review Ordering Instructions

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