Sign in →

Epic Code LAB2111423 Discontinued: Prader-Willi/Angelman (15q11-q13) by FISH

Important Note

Test discontinued: 4/27/2022

Recommended test is Angelman/Prader-Willi mPCR

Test Name Alias

Prader-Willi (15q11-q13) by FISH | SNRPN (15q11-q13) by FISH | 983

Interface Order Alias

11437

Clinical Information

Fluorescence in situ hybridization (FISH) using DNA probes (SNRPN) for Prader-Willi syndrome to locate a microdeletion in 15q11.2. 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

Capillary collect ok: No

Microtainer acceptable: No

Collection Instructions:

  • Gently invert 8 times to mix anticoagulant with blood.

 

 

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 interpretive 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 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

88273, 88271 x2

CDM Code

4148273, 4148271

Epic Test ID

1230101066

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

4/27/2022 - Will be removed from catalog October 2022

Beaker Names

Beaker Procedure Name: PRADER WILLI/ANGELMAN (15Q11-13) BY FISH
Beaker Display Name: Prader Willi/Angelman (15q11-q13) by FISH
BEAKER TEST NAME: PRADER WILLI/ANGELMAN (15Q11-Q13) BY FISH
BEAKER TEST REPORT NAME: Prader Willi/Angelman (15q11-q13) by FISH

Beaker Synonyms

PRADER WILLI/ANGELMAN

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