Table 2.

Genetic testing

Disease Panel	Abnormal Gene	Variant	Zygosity	Variant Classification	Interpretation
Amyotrophic Lateral Sclerosis	C9orf72	Hexanucleotide Repeat Units Detected	Homozygous	Normal range	Normal range repeats not associated with disease
Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Alzheimer Disease	PSEN2	c.442G > A(p.Val148lle)	Heterozygous	Uncertain significance	PSEN2 associated with autosomal dominant AD4, and variant missense not associated with change in gene function; not enough evidence currently to determine significance
Comprehensive Neuropathies, Comprehensive Hereditary Spastic Paraplegia Comprehensive	No abnormal genes in 170-gene panel	N/A	N/A	N/A	No pathogenic variants associated with disease
Hereditary Parkinson Disease and Parkinsonism	No abnormal genes in 29-gene panel	N/A	N/A	N/A	No pathogenic variants associated with disease