Myelodysplastic Syndrome Focused NGS Panel
Abbrev Code: | MDSFOC | ||
Order Code: | LAB8044 | Order Name: | Myelodysplastic Syndrome Focused NGS Panel |
Synonyms: | MDS; ASXL1; CBL; DNMT3A; EZH2; ETV6; RUNX1; SF3B1; TET2; TP53 | ||
Methodology: | Next generation sequencing | ||
CPT Codes: | 81450 x1, G0452 x1 | ||
Test Includes: | Next generation sequencing of ASXL1, DNMT3A, SF3B1, SRSF2, TET2, U2AF1, ZRSR2 | ||
Turnaround Time: | Performed Mon-Fri; results are reported within 10-14 days. | ||
Special Instructions: | Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
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Collection Instructions
Specimen: | Blood, bone marrow |
Optimal Volume: | 10 mL blood; 3 mL bone marrow |
Minimum\Peds Volume: | 3 mL blood; 1 mL bone marrow |
Container: | Yellow (ACD, Solution A) tube available from laboratory Alternate Containers: Purple (EDTA) |
Collection Instructions: | Bone marrow clot acceptable for testing. |
Causes for Rejection: | Whole blood: frozen or clotted specimen; incorrect anticoagulant; specimen more than 5 days old. All testing will be cancelled if engraftment testing is 100% donor engrafted in consultation with clinician.
Shared blood or bone marrow samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers. The diagnostic sample for hematology panels (not including MPN) requires at least 20% blasts to perform testing. Follow-up samples for the hematology panels will be tested for all the gene(s) positive in the diagnostic sample. |
Processing and Shipping
Specimen Processing: | Do not process. Store at room temperature. |
Shipping Instructions: | Ship at room temperature. Do not refrigerate or freeze. |
Stability: | Whole blood samples are stable for 5 days at room temperature. Do not refrigerate or freeze. |
Test Performed at or Referral Lab | Molecular Diagnostics (UMMC East Bank) |
Interpretive
Reference Range: | See interpretive report. | ||||||||||||||||||||||||||||||
Use: | This multi-gene panel is indicated in the diagnostic workup of a patient suspicious for myelodysplastic syndrome (MDS) or diagnosed with MDS. The table below lists gene mutations likely to be somatic (acquired, not congenital) and disease-related and therefore presumptive evidence MDS. All mutated genes are not unique to MDS and must be interpreted in the appropriate clinical context (e.g. cytopenias, <20% bone marrow blasts, no other AML defining criteria). Not all MDS patients will have a mutation in one of these genes.
CHIP: Clonal Hematopoiesis of Indeterminate Potential CCUS: Clonal Cytopenia of Undetermined Significance CMML: Chronic Myelomonocytic Leukemia JMML: Juvenile Myelomonocytic Leukemia. Reference: NCCN Guidelines, Myelodysplastic Syndromes, Version 2.2019-October 18, 2018. |
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