Methodology
FISH
Test Description and clinical significance
Probes
(8p11.1-q11.1 & 20q11.21/20q12 & 12p13.2 & 13q14.2/13q34 & 9q34.11-q34.13/22q11.22-q11.23)
Disease:
Myelodysplastic neoplasm, Myeloproliferative Disorder, Leukemias (AML,ALL, CML, CLL PDGFRB-associated chronic eosinophilic leukemia), congenital fibrosarcoma and Multiple myeloma.
comprehensive panel to detect cytogenetic abnormalities associated with myeloproliferative neoplams.
The X/Y chromosome centromere probe is designed to detect copy number of chromosome X and Y.
The CEN8 probe is designed to detect copy number variations of the 8p11 region on chromosome 8 and quantitative abnormalities of chromsome 8.
PTPRT/20q11 probe is for the detection of deletions involving the human PTPRT gene ( Protein tyrosine phosphatase receptor type T) as well as the detection of chromosome 20q11 specific sequences. Deletion of long arm of chromosome 20 [del(20q)] is the second most frequent recurrent chromosomal abnormality in hematological malignancies In patients with myelodysplastic neoplasms (MDS), a 20q deletion [del(20q)] isis associated with a favorable prognosis in MDS.
Detection of abnormalities involving the human ETV6 gene at 12p13.2 in by fluorescence in situ hybridization (FISH). The ETV6 gene encodes an ETS family transcriptional repressor and is frequently rearranged or fused with other genes in human leukemias of myeloid or lymphoid origins and MDS
Design to detect chromosomal abnormalities on chromosome 13.( ch13 deletion/abberations).
ABL1/BCR fusion gene is mainly caused by the t(9; 22)(q34; q11.2) translocation, which results in the Philadelphia chromosome. It is the hallmark in chronic myeloid leukemia (CML), but can also be present in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), MPD, MDS. It is a useful prognostic factor.
NGS MPN panel is recommended
Specimen Requirements
Collection:
'1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube/ 10 mL of fluid in RPMI medium, or
1 cm3 marble-sized piece of fresh tumor immersed completely with RPMI medium or sterile saline'
Stability:
120 Hours/48 hours
Unacceptable Conditions:
DO NOT FREEZE
Storage & Transport
Room Temperature/Refrigerated (2–8°C )
CPT(s)
88368, 88377x4
New York Approved
YES
TAT
2 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
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