GLUCOCORTICOID DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Familial Glucocorticoid Deficiency Panel evaluates genes involved in adrenal steroidogenesis and ACTH/MC2R signaling, useful in diagnosing hypoglycemia, hyponatremia, hypotension, and adrenal crises with normal aldosterone levels. It detects SNVs, indels, and CNVs in genes for the ACTH receptor, accessory proteins, and glucocorticoid receptor transduction pathways. Genes included: AAAS, AIRE, MC2R, MRAP, NNT, NR3C1, POMC, and STAR.