Seminomas and non-seminomas differ in how they grow and respond to treatment; ultrasound, AFP, HCG and LDH levels aid diagnosis, and tumor genetics guide therapy.
Also called branchio-oto-renal syndrome, this EYA1, SIX1 and SIX5 disorder brings hearing loss, branchial cleft cysts and kidney anomalies confirmed by sequencing.
Known as Finnish type familial amyloidosis, this autosomal dominant condition causes corneal lattice dystrophy, cranial nerve palsies and skin changes via GSN.
Tremor, dystonia, myoclonus, tics and ataxia often overlap, and 89 newly identified genes have been linked to these phenotypes; testing can point to one diagnosis.
Benign bony growths near the growth plates of long bones cause pain, nerve compression and deformity; EXT1 or EXT2 mutations confirm MCE, which is autosomal dominant.
An axial length under 20 mm marks this congenital condition, which raises the risk of hyperopia, glaucoma and retinal detachment; MFRP and PRSS56 are involved.
Tumors of the brain and spinal cord bring headaches, seizures and cognitive change; MRI, biopsy and tumor genetics together shape diagnosis, prognosis and treatment.
Most often found in children aged 3 to 4, this kidney cancer usually appears as an abdominal mass; ultrasound, CT or MRI and WT1 testing guide diagnosis and treatment.