FH, MDH2, PTEN, SAMD9L, SDHA, SDHB, SETBP1, SHOC2, TSC1, TSC2).
This panel includes genes that confer risk for both an autosomal recessive leukodystrophy and an autosomal dominant increased risk for cancer (i.e. Conditions associated with repeat expansions are not included on this panel. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the white matter of the brain, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement.
