Table 1.

Characteristics of the thirteen cases with developmental delay (DD) and abnormal FREE2 MS-QMA methylation results, that were negative by AmplideX TP-PCR as part of standard fragile X 1^st line PCR testing.

ID:	Sex	Age (years)	Reason for referral/Clinical notes	Probands CGG size: AmplideX TP-PCR 1st line test	Family history (if available)	CMA result	Another diagnosis (if available)	Confirmation status of the abnormal MS-QMA result (Y/N)
P4-B7	F	2	DD, ASD, query Rett/Angelman syndrome phenotype.	24, 29	N/A	Normal		Y [AmplideX mPCR; FM detected]
P3-D7	F	0.83	DD	29, 29	N/A	arr[hg19]15q11.2q13.1(22,770,421–28,526,410)x1	Angelman syndrome	N
P2-A11	F	16	ID, epilepsy	30, 33	N/A	Normal	N/A	N
P2-A6*	M/F*	24	Spina bifida; medical notes indicate born biologically female	32, 36	N/A	Normal		Y [AmplideX mPCR; EpiTYPER]
P4-E5	M	14	Tall stature, learning disability, connective tissue disorder	29, 73	N/A	arr[hg19](1–22,X)x2,Yx1	Klinefelter syndrome	Y [AmplideX mPCR]
P4-B8	M	8	ASD	47	N/A	arr[hg19] 2q13(110,873,834–110,980,919)x1	Variant of uncertain significance	Y [AmplideX mPCR; EpiTYPER]
P1-F12	M	10	ADHD	31	N/A	Normal		Y [AmplideX mPCR]
P4-D4	M	7	ID	30		Normal		Y [AmplideX mPCR]
P1-A11	M	3	DD, ASD, epilepsy	48	carrier fragile X mother, DD FHx.	arr[hg19]13q32.3(101,173,173–101,270,648)x1	Variant of uncertain significance	Y [AmplideX mPCR]
P4-B5	M	2	DD	55	N/A	Normal		Y [AmplideX mPCR]
P4-D9	M	16	DD, epilepsy	19	N/A	arr[hg19]1q44(243,804,016–244,844,380)x1	1q44 deletion	Y [AmplideX mPCR; EpiTYPER]
P4-C6	M	11	ID	48	N/A	Normal		Y [AmplideX mPCR]
P1-E3	M	7	ID, ASD	23	N/A	Normal		Y [AmplideX mPCR]

Note: Abnormal MS-QMA results were considered confirmed if also positive by AmplideX mPCR and/or FREE2 methylaiton EpiTYPER analysis. Sex (on the referral) column: M = male; F = female. ID = intellectual disability; DD = developmental delay, ADHD = attention deficit hyperactivity disorder; ASD = autism spectrum disorder; N/A = not available; *M/F = male that was biologically born as female.