GLUCOCORTICOID DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes

LabGenetics
Caja de GLUCOCORTICOID DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de GLUCOCORTICOID DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes

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.

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