Unacceptable specimens: Blood/Bone Marrow collected in heparin (green-top) tubes.
***Note: This assay is not designed for formalin-fixed paraffin embedded tissues****
Storage/Transport Temperature
Refrigerate
Performed
Monday-Friday Molecular Diagnostics Laboratory
Remarks
There are two seperate tests built depending on specimen source, MPNPB for peripheral blood, and MPNBM for Bone Marrow samples.
***Note: This assay is not designed for formalin-fixed paraffin embedded tissues****
Notes
Molecular Diagnostics Laboratory now offers a panel analysis for somatic mutations in 5 genes that are known to be mutated in Myeloproliferative Neoplasmsincluding Polycythemia Vera (PV), Essential Thrombocythemia (ET), Primary Myelofibrosis (PMF), Chronic Neutrophilic Leukemia (CNL) and Systemic Mastocytosis (SM).
This panel, using masking of the 40 gene Oncomine Myeloid panel on the Ion S5™ Prime System, will aid in both establishing the diagnosis of a Myeloproliferative Neoplasmand discriminating these clonal entities from reactive conditions, in fresh bone marrow and peripheral blood. To summarize: MPN Panel
JAK2 (Exons 12, 13, 14, 15, hotspots)
MPL (Exons 3,4,10,12 hotspots)
CALR (full gene)
KIT (Exons 1,2,8-11,13,17 hotspots)
CSF3R (Exons 14,17,18 hotspots)
This assay is not intended for the analysis of normal/ non-neoplastic tissue or for the identification of germline variants that may result in hereditary syndromes. If variants are identified that raise concern for a germline change, the oncologist will be consulted regarding genetic referral.
This assay does not identify large insertions or deletions, gene amplification, chromosomal translocations or other structural changes, gene expression, epigenetic alterations or mutations that are not covered by this panel.
The stated limit of detection for this assay is approximately 5% mutant allele for SNVs and 10% for small indels, but may vary depending on the specific mutation. In certain cases (e.g. JAK2 p.V617F), variants can be identified down to 3% mutant allele frequency.
Performed
Monday-Friday Molecular Diagnostics Laboratory
Methodology
Next Generation Sequencing
Reported
Within 10-14 buisness days
Interpretive Data
Results and Interpretation will be individualized based on specific findings. Depending on these findings, results may include gene mutations, associated targeted therapy information, and clinical trial information for certain identified mutations. Mutations will not be identified in every case.
Unacceptable specimens: Blood/Bone Marrow collected in heparin (green-top) tubes.
***Note: This assay is not designed for formalin-fixed paraffin embedded tissues****
Storage/Transport Temperature
Refrigerate
Performed
Monday-Friday Molecular Diagnostics Laboratory
Remarks
There are two seperate tests built depending on specimen source, MPNPB for peripheral blood, and MPNBM for Bone Marrow samples.
***Note: This assay is not designed for formalin-fixed paraffin embedded tissues****
Notes
Molecular Diagnostics Laboratory now offers a panel analysis for somatic mutations in 5 genes that are known to be mutated in Myeloproliferative Neoplasmsincluding Polycythemia Vera (PV), Essential Thrombocythemia (ET), Primary Myelofibrosis (PMF), Chronic Neutrophilic Leukemia (CNL) and Systemic Mastocytosis (SM).
This panel, using masking of the 40 gene Oncomine Myeloid panel on the Ion S5™ Prime System, will aid in both establishing the diagnosis of a Myeloproliferative Neoplasmand discriminating these clonal entities from reactive conditions, in fresh bone marrow and peripheral blood. To summarize: MPN Panel
JAK2 (Exons 12, 13, 14, 15, hotspots)
MPL (Exons 3,4,10,12 hotspots)
CALR (full gene)
KIT (Exons 1,2,8-11,13,17 hotspots)
CSF3R (Exons 14,17,18 hotspots)
This assay is not intended for the analysis of normal/ non-neoplastic tissue or for the identification of germline variants that may result in hereditary syndromes. If variants are identified that raise concern for a germline change, the oncologist will be consulted regarding genetic referral.
This assay does not identify large insertions or deletions, gene amplification, chromosomal translocations or other structural changes, gene expression, epigenetic alterations or mutations that are not covered by this panel.
The stated limit of detection for this assay is approximately 5% mutant allele for SNVs and 10% for small indels, but may vary depending on the specific mutation. In certain cases (e.g. JAK2 p.V617F), variants can be identified down to 3% mutant allele frequency.
Ordering
Performed
Monday-Friday Molecular Diagnostics Laboratory
Methodology
Next Generation Sequencing
Reported
Within 10-14 buisness days
Result Interpretation
Interpretive Data
Results and Interpretation will be individualized based on specific findings. Depending on these findings, results may include gene mutations, associated targeted therapy information, and clinical trial information for certain identified mutations. Mutations will not be identified in every case.
