Table 2.

Summary of individuals with abnormal confirmatory test results identified during this study.

Case ID	Gender	Race	Plasma VLCFA	Gene	Variant 1	Variant 2	Diagnosis	Current Status
5	Male	African American	Abnormal (C26:0 = 4.24 nmol/mL) *	ABCD1	c.1203delG	--	ALD	Lost to Follow up
6	Female	African American	Abnormal (C26:0 = 1.27 nmol/mL) **	ABCD1	None	None	Unresolved	Lost to Follow up
10	Female	Caucasian	Abnormal (C26:0 = 6.26 nmol/mL) *	PEX1	c.2097dupT	C.2528 G>A (p.Gly843Asp)	PBD	Followed by multiple services
11	Female	Caucasian	Abnormal (C26:0 = 6.44 nmol/mL)	PEX5	c.583 C>T (p.Gln195Ter)	c.1279 C>T (p.Arg427 Ter)	PBD	Deceased

All variants were reported as pathogenic by the performing laboratory. * reference range for C26:0<1.30. ** reference range for C26:0 0.17–0.73. Case IDs are the same as used in Table 1.