Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Table 2 Completed cases ES showing rate of molecular diagnosis in terms of age and sequencing strategy

	Molecular diagnosis (N)	Total (N)	Rate (%)	95% CI
Age
Fetus	0	4	0.0	–
< 5 years	13	30	43.3	27.4–60.8
5–18 years	6	18	33.3	16.3–56.3
> 18 years	5	24	20.8	9.2–40.5
Sequencing strategy
Trio^a	15	43	34.9	22.4–49.8
Singleton	4	18	22.2	9.0–45.2
Other^b	5	15	33.3	15.2–58.3
All cases	24	76	31.6	22.2–42.7

^aProband and both unaffected parents; ^bin 9 cases proband and affected siblings (7 cases), cousin (1 case) or grandfather (1 case); in the remaining 6 cases the proband alone was sequenced but with unrelated cases having the same phenotype included in this case series (3 singleton cases myaesthenic syndrome, molecular diagnosis in 1 case; 2 cases migralepsy, molecular diagnosis in 1 case)

ISSN: 1756-994X