Table 3.

Summary of the genetic test results of 53 probands analysed in March 2020

No of cases/variants		Ischaemic	Haemorrhagic	Total
No of cases	Mutation detected	13	2	15
	Mutation undetected*	34	4	38
	Mutation detected (%)	27.66%	33.33%	28.30%
Likely pathogenic mutation	No of cases (%)	3 (6.38%)	1 (16.67%)	4 (7.55%)
	No of mutations	3	1	4
	No of genes	3	1	3
	Genes	NOTCH3, ABCC6, LDLR	ABCC6	/
VUS	No of cases (%)	10 (21.28%)	1 (16.67%)	11 (20.75%)
	No of mutations	11	1	12
	No of genes	9†	1	10
	Genes	NOTCH3, PKD1, MYH9, SERPIND1, FBN1, RYR1, VWF, SCN5A, MTHFR	KRIT1	/

*Genetic variants that were of pathogenic/likely pathogenic/VUS grade were not detected in these patients in the targeted regions.

†VWF and PKD1 both appear twice.

VUS, variants of uncertain significance.