The MDS/MPN Panel (IAD160996_182) exists of 186 amplicons and is in silico covering 100% of submitted areas (all coding regions (exons) and is able to analyze variants in 21 genes implicated in MDS/MPN.

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Gene

Chromosome

NCBI Transcript

Exon

Coverage %

ASXL1 chr20 NM_015338.5 12 100

BCOR

chr19

NM_001123383.1

2-15 (full)

100

CALR

chr19

NM_004343.3

9

100

CBL

chr11

NM_005188

8, 9

100

CSF3R

chr1

NM_156039.3

12, 13, 14, 15, 16, 17

100

ETNK1

chr12

NM_018638

3

100

ETV6

chr12 

NM_001987.4

3-8 (full)

100

EZH2

chr7

NM_004456.4

2-20 (full)

100

IDH1

chr2

NM_005896.3

4

100

IDH2

chr15

NM_002168.3

4

100

JAK2

chr9

NM_004972.3

12, 14

100

KRAS

chr12

NM_033360.3

2, 3

100

MPL

chr1

NM_005373.2

4, 10, 12

100

NRAS

chr1

NM_002524.4

2, 3

100

SETBP1

chr18

NM_015559.2

4

100

SF3B1

chr2

NM_012433.3

12, 13, 14, 15, 16

100

SRSF2

chr17

NM_003016.4

1, 2 (full)

100

STAG2

chrX

NM_001042749.2

3 to 35 (full)

100

TP53 chr17 NM_000546.5 2-11 (full) 100

U2AF1

chr21

NM_001025203

2, 6

100

ZRSR2

chrX

NM_005089.3

1 to 11 (full)

100

Coverage of the NGS MDS/MPN Panel

Coverage for the NGS MDS/MPN panel is in silico validated and is 100% for all amplicons representing 21 different genes. Wet-lab validation of the MDS/MPN panel is in progress.

Reporting: addition hematological malignancies variants

This test does not distinguish between somatic and germ line alterations in analysed gene regions, particularly when variant allele frequencies (VAF) are near 50% or 100%. If nucleotide alterations in genes associated with germ line mutation syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, appropriate genetic counselling may be indicated.

Variants detected between 5% and 10%. Variant Allele Frequency may indicate subclonal tumor populations. However the clinical significance of these findings may not always be distinct. It is demonstrated that in blood DNA samples from individuals with advancing age and who do not have a hematologic neoplasm, a low incidence of gene variants that are associated with myeloid neoplasms can be detected. This phenomenon of clonal hematopoiesis of indeterminate potential (CHIP) may not be clearly distinguishable from tumor-associated mutations, especially if detected as a sole abnormality (DOI: 10.1182/blood-2015-03-631747).

Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of the results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.