Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting

Table 2 100% Concordance ^a of Limited dNTPs and HRM with MLPA

Target	Copy #	Phenotype	Limited dNTPs and HRM	MLPA
A) SMN1	0	SMA	36	36
	1	Carrier	43	43
	2	Normal	23	23
	3	No SMA	1	1
B) 22q11.2	2^b	Normal	56	56
LCR22A-B	1^c	22q11.2DS	3	3
LCR22A-C	1^d	22q11.2DS	2	2
LCR22A-D	1^e	22q11.2DS	38	38

^aIndividual sample copy numbers were in complete concordance, not just aggregate numbers
^b2 copies of CLTCL1, KLHL22 and PI4KA genes
^c1 copy of CLTCL1 gene. 2 copies of KLHL22 and PI4KA genes
^d1 copy of CLTCL1 and KLHL22 genes. 2 copies of PI4KA gene
^e1 copy of CLTCL1, KLHL22, and PI4KA genes

ISSN: 1471-2164