Williams Beuren syndrome (WBS) by FISH

Alphabetical Test listing

Williams Beuren syndrome (WBS) by FISH-4280F

Test name:

Test number:

4280F

Excellian order number:

LAB4280F

Abbreviation:

CYG

Alternate names:

ELN
Chromosome 7q11.23 deletion

Useful for:

Detects deletions involving the ELN gene on 7q11.23 within the Williams Beuren syndrome (WBS) critical region.

Specimen type:

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

Processing instructions:

Submit entire specimen, UNSPUN

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

Alternate specimen volume:

2.0 mL

Transport and stability:

Ambient - Do not heat or freeze

Performing lab:

AHL - Cytogenetics: X

Days set up:

Mo - Fr

TAT:

14 days

Method:

Fluorescence in situ Hybridization (FISH)

Reference ranges:

An interpretative report will be provided

CPT codes:

88271 x2
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