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Disorder Names
Defects in calcium homeostasis(CASR)
Defects in magnesium homeostasis(CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6)
Defects of renal handling of amino acids(SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9)
Dicarboxylic aminoaciduria(SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9)
Disorders of creatine metabolism(MT, GATM, SLC6A8)
Denys-Drash syndrome(FH, FLCN, MET, TSC1, TSC2, VHL, WT1)
Down's Syndrome (Trisomy 21)(NA)
Disorders with androgen excess(CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR)