Genetics

ABCG8 gene

What is noninvasive prenatal testing NIPT and what disorders can it screen for

Aromatase deficiency

CYBA gene

Permanent neonatal diabetes mellitus

SLC22A12 gene

Small fiber neuropathy

PLOD1 gene

Hypomyelination with brainstem and spinal cord involvement and leg spasticity

X-linked dystonia-parkinsonism

MCEE gene

DSP gene