Smith-Magenis syndrome (SMS) by FISH

Alphabetical Test listing

Smith-Magenis syndrome (SMS) by FISH-4280F

Test name:

Test number:

4280F

Excellian order number:

LAB4280F

Abbreviation:

CYG

Alternate names:

FLII
Chromosome 17p11.2 deletion / duplication
Potocki-Lupski syndrome (PTLS)

Useful for:

Detects deletions and duplications involving the FLII gene on 17p11.2 within the Smith-Magenis syndrome (SMS) critical region. Reciprocal duplication of this region is associated with Potocki-Lupski syndrome (PTLS).

Specimen type:

Sodium heparin (Na hep) whole blood

Collection container:

Dk green heparin

Volume:

5.0 mL

Minimum volume:

2.0 mL

Collection instructions:

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

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 top (Na Heparin) tube - NO gel

Alternate specimen type:

Cord blood

Alternate specimen volume:

2.0 mL

Transport and stability:

Ambient (strict)

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 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