Table 1. Advantages, limitations, and... | American Society of Hematology

Table 1.

Advantages, limitations, and clinical utility of currently available genomic technologies in hematologic malignancies

	G-banding	FISH	CMA	WGS	Targeted sequencing panels		RT-PCR	MPSeq	WTS	OGM
Analyte	Chromosome in dividing cells	DNA in interphase nuclei and metaphase	DNA	DNA	DNA	RNA	RNA	DNA	RNA	DNA
Coverage	Whole	Targeted	Whole	Whole	Targeted	Targeted	Targeted	Whole	Whole	Whole
Distinction of individual cell clones	Yes	Yes	No	No	No	No	No	No	No	No
Analysis bias	Yes	Yes (if cultured)	No	No	Yes	Yes	No	No	No	No
Turnaround time (d)	3-7	4 h to 2 d	3-7	7-14	7-14	7-14	4 h to 5 d	7-14	14-21	7-10
Unmapped region detection	Yes	No	No	No	No	No	No	No	No	Some Alu and LINE elements
Ability to multiplex	Low	Low	High	High	High	High	High	High	High	Low to medium
Analytical sensitivity (%)	1*-3 out of 20 metaphases	1-10	10-20	20-30	1-10	5-10	~0.01	10	1-10	5-20
SVs	Yes	Yes	No	Yes (long-read or short-read deep sequencing)	No	Gene fusion	Limited	Yes	Yes	Yes
CNVs	Yes	Yes	Yes	Yes	Limited	Limited	Limited	Yes	Limited	Yes
SNVs	No	No	No	Yes	Yes	Yes	No	Limited	Yes	No
Disease status	Diagnosis, disease monitoring, relapse	Diagnosis, disease monitoring, relapse	Diagnosis, relapse	Diagnosis, relapse	Diagnosis, disease monitoring, relapse, MRD (if deep coverage)	Diagnosis, disease monitoring, relapse, MRD (if deep coverage)	Diagnosis, disease monitoring, MRD, relapse	Diagnosis, relapse	Diagnosis, relapse	Diagnosis, relapse
Well-established	High	High	High	Low	High	High	High	Low	Low	Low
Cost	++	++	+++	+++++	+++	+++	++	++++	++++	+++

	G-banding	FISH	CMA	WGS	Targeted sequencing panels		RT-PCR	MPSeq	WTS	OGM
Analyte	Chromosome in dividing cells	DNA in interphase nuclei and metaphase	DNA	DNA	DNA	RNA	RNA	DNA	RNA	DNA
Coverage	Whole	Targeted	Whole	Whole	Targeted	Targeted	Targeted	Whole	Whole	Whole
Distinction of individual cell clones	Yes	Yes	No	No	No	No	No	No	No	No
Analysis bias	Yes	Yes (if cultured)	No	No	Yes	Yes	No	No	No	No
Turnaround time (d)	3-7	4 h to 2 d	3-7	7-14	7-14	7-14	4 h to 5 d	7-14	14-21	7-10
Unmapped region detection	Yes	No	No	No	No	No	No	No	No	Some Alu and LINE elements
Ability to multiplex	Low	Low	High	High	High	High	High	High	High	Low to medium
Analytical sensitivity (%)	1*-3 out of 20 metaphases	1-10	10-20	20-30	1-10	5-10	~0.01	10	1-10	5-20
SVs	Yes	Yes	No	Yes (long-read or short-read deep sequencing)	No	Gene fusion	Limited	Yes	Yes	Yes
CNVs	Yes	Yes	Yes	Yes	Limited	Limited	Limited	Yes	Limited	Yes
SNVs	No	No	No	Yes	Yes	Yes	No	Limited	Yes	No
Disease status	Diagnosis, disease monitoring, relapse	Diagnosis, disease monitoring, relapse	Diagnosis, relapse	Diagnosis, relapse	Diagnosis, disease monitoring, relapse, MRD (if deep coverage)	Diagnosis, disease monitoring, relapse, MRD (if deep coverage)	Diagnosis, disease monitoring, MRD, relapse	Diagnosis, relapse	Diagnosis, relapse	Diagnosis, relapse
Well-established	High	High	High	Low	High	High	High	Low	Low	Low
Cost	++	++	+++	+++++	+++	+++	++	++++	++++	+++

Depending on the clinical situation, 1 metaphase with a recurring abnormality may be considered evidence for an abnormal clone.