Prader-Willi syndrome (PWS) by FISH

Alphabetical Test listing

Prader-Willi syndrome (PWS) by FISH-4280F

Test name:

Test number:

4280F

Excellian order number:

LAB4280F

Abbreviation:

CYG

Alternate names:

SNRPN
Chromosome 15q11.2 deletion/duplication

Useful for:

Detects deletions and duplications involving the SNRPN gene on 15q11.2 within the Prader-Willi syndrome (PWS) critical region. Reciprocal duplication of this region is associated with chromosome 15q11-q13 duplication syndrome.

Specimen type:

Sodium heparin (Na hep) whole blood

Collection container:

Dk green Sodium heparin (Na hep), no gel

Volume:

5.0 mL

Minimum volume:

2.0 mL

Collection instructions:

If both chromosome and FISH tests are ordered, only 1 tube is needed.

Cytogenetics Specimen Collection Instructions

Processing instructions:

Test Ordering For Excellian Users:
Order test place holder according to specimen type.
Answer the questions in Excellian to select the test name and complete the test order.

Specimen = Congenital Blood (LAB4280F)

For prenatal diagnosis, please call the lab and discuss with the Cytogenetics lab director.

Transport container:

Dk green Sodium heparin (Na hep), no gel

Alternate specimen type:

Cord blood, Sodium heparin (Na hep)

Alternate specimen volume:

2.0 mL (minimum 1.0 mL)

Transport and stability:

Ambient

Do not heat or freeze

Performing lab:

AHL - Cytogenetics: Z

Days set up:

Mo - Fr

TAT:

14 days

Method:

Fluorescence in situ Hybridization (FISH)

Reference ranges:

Interpretative report

CPT codes:

88271 x3
88273
88275
88230 Culture (if appropriate)

Subject to medical necessity (Y/N):

Yes

LCD/NCD:

Medical necessity

Date created:

08/17/2015

Revised date:

09/01/2015