. Author manuscript; available in PMC: 2017 Apr 28.

Published in final edited form as: Br J Haematol. 2015 Dec 13;172(5):735–744. doi: 10.1111/bjh.13897

Table III.

Validation studies using deep RNA sequencing in CD19-selected cells from bone marrow aspirates of 5 WM patients with multiple CXCR4 mutations identified by AS-PCR and Sanger sequencing.

	ΔC_T CXCR4^{S338X C>A}	AS-PCR CXCR4^{S338X C>A}	ΔC_T CXCR4^{S338X C>G}	AS-PCR CXCR4^{S338X C>G}	Sanger Sequencing	RNASeq Reads	RNASeq Findings
WM3	10·48	Negative	3·45	Positive	CXCR4^{S338X C>G} CXCR4^{S338 fs}	5316 5217	r.1013 C>G 10% r.1012_1014 insT 5%
WM4	10·83	Negative	119	Positive	CXCR4^{S338X C>G}	12235	r.1013 C>G 56%
WM7	5·10	Positive	8·73	Positive	CXCR4^WT	8208	r.1013 C>A 6% r.1013 C>G 1%
WM8	4·56	Positive	7·16	Positive	CXCR4^WT	8766	r.1013 C>A 5% r.1013 C>G 1%
WM9	2·97	False Positive	7·26	Positive	CXCR4^{S339 fs}	5494 5819	r.1013 C>G 3% r.1016_1017 insT 18%

WM, Waldenström Macroglobulinaemia; AS-PCR, allele-specific polymerase chain reaction.