Biochemical Markers for Disease Diagnosis — Flashcards

_____ is a tumor suppressor gene that encodes for the protein Hamartin

_____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion

An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome

Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test

How is the diagnosis of HGPRT deficiency made?_____

The ratio of BH4 loading test 2nd or 3rd-hour post-load value with urine _____ level has high sensitivity and specificity, for diagnosing Segawa syndrome

A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).

Which epileptic syndrome has been associated with mutations in genes: ? _____

The following symbol represents _____zygotic twins on a pedigree chart

The enzyme _____ is deficient in metachromatic leukodystrophy