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HelpEpic Code LAB2111384 Trisomy 21 by FISH
Test Name Alias
Down Syndrome by FISH | Trisomies | 980
Interface Order Alias
11398
Quick Collect
AP Ambient
Clinical Information
Fluorescence in situ hybridization (FISH) performed using locus-specific probes for chromosomes 21 and 13 (used as internal control) to detect trisomy 21, associated with Down syndrome.
Ordering Instructions
Trisomy 21 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
Specimen Collection: Blood
Container(s): 4.0 mL Green top Sodium (Na) Heparin
Preferred Volume to Collect: 4.0 mL
Minimum Volume to Collect: 1.0 mL
Neonate Volume to Collect: 1.0 mL
Capillary collect ok: No
Microtainer acceptable: No
Collection Instructions:
- Gently invert 8 times to mix anticoagulant with blood.
Processing Instructions (Laboratory, Outpatient or Off-site collection)
Processed Specimen: Whole Blood
Centrifuge/Spin: No
Aliquot: No
Processing Instructions:
-
If ambient temperature exceeds 80°F or is below 40°F, please send in an insulated container.
Transport Temperature: Ambient
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
Reflex Information
Routine chromosome analysis is performed on all specimens positive for trisomy 21 by FISH in order to rule out a possible Robertsonian translocation.
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: 1 – 2 days.
Note : 24hr TAT is available if specimen is in lab by 2:00 pm Monday – Friday.
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 Laboratory. It has not been cleared or approved by the US FDA. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes.
CPT
88275, 88271 x2
CDM Code
3108827102, 3108827301
Epic Test ID
1230100619
LOINC
Specimen Type: 66746-9
Indication Provided: 42349-1
Result: in process
Interpretation: 59050-5
Comments: 69965-2
Mayo Access Code
SHO133
Reviewed Date
4/28/2023