COMBINED PITUITARY HORMONE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Combined Pituitary Hormone Deficiency (CPHD) panel analyzes genes involved in pituitary development and the transcriptional regulation of the somatotropic, gonadotropic, thyrotropic, and corticotropic axes. It is useful in cases of multiple pituitary hormone deficiencies, pituitary stalk hypoplasia/agenesis, or ectopic neurohypophysis. Using next-generation sequencing (NGS) with single-cell variants (SNVs), indels, and single-cell variants (CNVs), it identifies variants that affect hypothalamic-pituitary specification and hormone-producing cell differentiation. Genes included are: GHR, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, and SOX3.