. 2022 Nov 18;12(11):1924. doi: 10.3390/jpm12111924

Table 2.

Detailed clinical summary and genetic testing results of all patients enrolled in the study. rWGS: rapid whole genome sequencing; FISH: fluorescence in situ hybridization.

Patient	Age at Enrollment	Time to rWGS Result	Clinical Features	Sequencing	Molecular Findings	Diagnosis	Diagnostic Test *		Incidental Findings	Change in Management	Deceased		Consented to Further Research
Patient	Age at Enrollment	Time to rWGS Result	Clinical Features	Sequencing	Molecular Findings	Diagnosis	rWGS	Other	Incidental Findings	Change in Management	Prior to Result	After Result	Consented to Further Research
1	3 days	11 days	Dandy-Walker malformation, eye abnormalities, congenital heart disease, sacral anomalies, coagulopathy	Trio	CAPN15 compound heterozygosity [hg19] chr16:84116-692192, del(16p13.3); CAPN15 (c.2594T>C, p.Leu865Pro) PKP2 heterozygosity (c.235C>T, p.Arg79Ter)	Oculogastrointestinal neurodevelopmental disorder	X	microarray	X	familial cascade testing, cardiac surveillance	X		X
2	3 days	9 days	cleft lip, microcephaly, eye anomalies, brain anomalies, Dandy-Walker malformation, congenital heart disease, heterotaxy, skeletal anomalies, single umbilical artery, skin abnormalities	Trio	Mosaic terminal loss 13q [hg19] chr13:35,073,749-115,107,733	Mosaic monosomy 13		blood microarray and buccal FISH				X	X
3	7 days	14 days	schizencephaly, eye abnormalities, bone abnormalities, congenital heart disease	Duo (rerun as Trio)									X
4	7 days	13 days	Hemihypertrophy vs. hemiatrophy, colonic atresia, congenital heart disease, skin abnormalities, skeletal abnormalities, sacral anomalies, single umbilical artery, club feet	Trio									X
5	6 months	4 days	heart failure, congenital heart disease, coagulopathy, inflammatory abnormalities, subdural hemorrhage, femur fracture	Trio	TTN de novo heterozygosity TTN (c.5253del, p.Lys17508AsnfsTer17)	Titin-related disorders	X					X
6	10 days	14 days	encephalopathy, intracranial hemorrhage, brain anomalies, congenital heart disease, hepatomegaly, hepatic failure, adrenal hyperplasia, coagulopathy, skeletal dysplasia	Trio	GATA1 de novo heterozygosity- variant of uncertain significance GATA1 (c.529G>A, p.Gly177Arg)	Suggestive X-linked hematologic condition; non-diagnostic given variant classification, female sex of patient, and inability to pursue further clinical testing after patient’s demise	X				X
7	4 days	5 days	pectus excavatum, hypotonia, congenital heart disease, talipes equinovarus, respiratory insufficiency, cleft palate, club feet	Trio	STAC3 homozygosity STAC3 (c.851G>C, p.Trp284Ser)	STAC3-related congenital myopathy	X			anesthesia precautions for malignant hyperthermia risk
8	1 day	15 days	congenital heart disease, lactic acidosis, intracranial hemorrhage, hyperglycemia, fractures	Trio									X

* Indicates the test(s) that resulted in conclusive molecular diagnosis.