. 2022 Oct 6;20:100567. doi: 10.1016/j.ebr.2022.100567

Table 1a.

Diagnostic studies and evaluations for Patient #1.

Infectious	Autoimmune/inflammatory	Metabolic
B cell panel: negative HLH gene panel: negative HIV and hepatitis: negative COVID Ag testing ×3: negative	CSF 4/2/20: 1 cell, 57 protein, 71 glucose Autoimmune encephalopathy panel: negative Pelvic US: negative for teratoma Oligoclonal band panel: negative NMO: negative	Serum carbohydrate deficient transferrin: normal and inconsistent with a CDG Serum biotinidase level, 13.8 U/L (within normal limits) Homocysteine: low @ 3.5 Urine purine and pyrimidine panel: normal Urine sulfocysteine: normal Urine mucopolysaccharides screen: with elevated heparan sulfate, 0.33 Serum carbohydrate deficient transferrin: inconsistent with CDG Acylcarnitine profile: normal Free and total L-carnitine: plasma level normal Urine organic acids: normal Plasma amino acids: normal CSF metabolic studies: negative

Imaging	Genetic
Normal unenhanced and enhanced MRI of the brain (×5) Negative MRA of the head	Epilepsy panel^a with 5 VUS: PCDH19, POLG, DOCK7, NRXN1, and PLCB1 c.39-5T>G DOCK7 gene: ✓ father; X mother c.2299A>G p.Met767Val NRXN1 gene: ✓ mother; X father c.199A>C p.Ser67Arg PLCB1 gene: ✓ father; X mother c.3131T>C p.Val1044Ala POLG gene: ✓ father; X mother All are responsible for autosomal recessive disorders, and a second change was not found c.545G>C pGly182Ala PCDH19 gene: ✓ mother; X father Mother asymptomatic; uncertain significance Whole exome sequencing with mitochondrial genome (TRIO): negative

Imaging

Genetic

Normal unenhanced and enhanced MRI of the brain (×5)
Negative MRA of the head

Epilepsy panel^a with 5 VUS: PCDH19, POLG, DOCK7, NRXN1, and PLCB1
c.39-5T>G DOCK7 gene: ✓ father; X mother
c.2299A>G p.Met767Val NRXN1 gene: ✓ mother; X father
c.199A>C p.Ser67Arg PLCB1 gene: ✓ father; X mother
c.3131T>C p.Val1044Ala POLG gene: ✓ father; X mother
All are responsible for autosomal recessive disorders, and a second change was not found
c.545G>C pGly182Ala PCDH19 gene: ✓ mother; X father
Mother asymptomatic; uncertain significance
Whole exome sequencing with mitochondrial genome (TRIO): negative

Ag, antigen; CDG, congenital disorders of glycosylation; COVID, coronavirus disease; CSF, cerebrospinal fluid; HLH, hemophagocytic lymphohistiocytosis; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging; NMO, neuromyelitis optica; US, ultrasound.

GeneDx, Inc., Gaithersburg, MD.