PDGFRA (CHIC2) by FISH

Alphabetical Test listing

PDGFRA (CHIC2) by FISH-4280G (bone marrow) or 4280H (blood)

Test name:

Test number:

4280G (bone marrow) or 4280H (blood)

Excellian order number:

4280G - CYTOGENETIC BONE MARROW STUDIES
4280H - CYTOGENETIC LEUKEMIC BLOOD STUDIES

Abbreviation:

PDGFRA (CHIC2) FISH

Alternate names:

CHIC2
Eosinophilia
Eosinophilia FISH Panel
FIP1L1
FIP1L1-PDGFRA fusion
Mast Cell Disease
PDGFRA
4q12
Fluorescence In Situ Hybridization
FISH

Useful for:

Genetic abnormalities that involve the PDGFRA gene cause a type of blood cell cancer called PDGFRA-associated chronic eosinophilic leukemia. The most common of these genetic abnormalities is a deletion of genetic material from chromosome 4 that brings together parts of two genes, FIP1L1 and PDGFRA, creating the FIP1L1-PDGFRA fusion gene. Occasionally, genes other than FIP1L1 are fused with the PDGFRA gene via a translocation between chromosome 4q12 and a partner chromosome. This gene is also involved in systemic mastocytosis and chronic eosinophilic leukemia. Patients carrying the FIP1L1-PDGFRA fusion show an excellent response to low-dose imatinib mesylate therapy.

This test can be ordered individually or as part of an Eosinophilia FISH Panel. See the individual panel test for more details.

Specimen type:

Bone Marrow aspirate

Collection container:

Bone marrow aspirate:

Collect bone marrow aspirate in a sterile Sodium heparin (Na hep) syringe and transfer to a sterile vial/tube

- or -

Collect bone marrow in sterile syringe (non-heparinized) and transfer to a Dk green Sodium heparin (Na hep), no gel

Volume:

5 mL

Minimum volume:

3 mL

Collection instructions:

Transfer aspirate from syringe to transport container.

Processing instructions:

Submit entire specimen unspun

Transport container:

Sterile vial/tube

Dk green Sodium heparin (Na hep), no gel

Alternate specimen type:

Bone marrow core
Sodium heparinized whole blood
Touch Prep Slides

Alternate collection container:

Bone marrow core:

Submit in sterile tube/cup filled with sterile culture medium, sterile Hanks Balance Salt Solution (HBSS) or sterile saline

Whole blood:

Dk green Sodium heparin (Na hep), no gel

Alternate specimen volume:

Bone marrow core: 10 mm
Whole blood: 5 mL

Alternate collection instructions:

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting.

Alternate processing instructions:

Submit entire specimen unspun

Alternate transport container:

Bone marrow core:

Sterile tube/cup

Whole blood:

Dk green Sodium heparin (Na hep), no gel

Required forms/information:

AHL Cytogenetics Oncology Request

Transport and stability:

Ambient

Specimen retention time:

Specimens retained until completion of all testing

Reason for rejection:

Improper label (unlabeled or mislabeled)
Wrong container (anticoagulant or solution)
Delay in transport
Improper storage
Leaking container
Slides broken beyond repair

Performing lab:

AHL - Cytogenetics: X

Days set up:

Mo-Fr

TAT:

14 business days

Method:

Fluorescence in situ hybridization (FISH)

Reference ranges:

Normal or Abnormal with interpretation

CPT codes:

88271 x 3
88275
88291

Subject to medical necessity (Y/N):

Yes

LCD/NCD:

Medical necessity

Date created:

03/16/2021

Revised date:

09/08/2022

Review date:

09/08/2022