Testing Stretegies

Question 1

Design a testing strategy for FH

Answer 1

Targeted panel including LDLR, PCSK9, APOB, LDLRAP and APOE, plus 12 polys for polygenic SNP score. MLPA for LDLR.

Question 2

What do European Myeloma Network recommend FISHing for in Myeloma cases?

Answer 2

t(4;14) - IGH;FGFR3 
t(14;16) - IGH;MAF
17p13 del’s - TP53 - very poor
1p/1q del’s
All poor or very poor prognosis

Question 3

What do European Myeloma Network recommend FISHing for in extended panel?

Answer 3

t(11;14) - IGH;CCND1
t(14;20) - IGH;MAFB
Ploidy status
Chrm 12 and 13 abn’s

Question 4

Design a testing strategy for MDS

Answer 4

SNP Arrays - balanced rearrangements are rare and molecular markers poorly characterised
WHO guidelines state karyotyping should be used. Somatic UPD in 20% cases
Largely interested in CNVs of 5,7,8 or 20

Question 5

Design a testing strategy for ALL

Answer 5

1) Ploidy
2) KMT2A rearr’s
3) ETV6-RUNX1
4)BCR-ABL1, TCF3-PBX1, TCF3-HLF
5) CNVs
6) iAMP21
7) ABL like rearr’s
NGS or SNP arrays and FISH

Question 6

What will the testing strategy for sarcomas be?

Answer 6

WGS, 21 day TAT, fresh tissue, urgent FISH still in labs

Question 7

Design a testing strategy for MPN

Answer 7

JAK2 V617F, exon 12 mutns, CALR, MPL, ASXL1, TET2, SRSF2

NGS