hypo-parathyroidism

Our Hypo-parathyroidism panel comes in two versions - standard (4 genes) and extended (8 genes)

 

STANDARD HYPO-PARATHYROIDISM PANEL - PHENOTYPES

 

Hypoparathyroidism, Autosomal Dominant ✚ Autoimmune Polyendocrine Syndrome, type I, with or without reversible metaphyseal dysplasia ✚ Hypoparathyroidism,familial isolated ✚ Hypoparathyroidism, sensorial deafness, andrenal disease ✚ Pseudohypoparathyroidism, type IB ✚ Pseudohypoparathyroidism, type IA ✚ Pseudopseudohypoparathyroidism

 

Gene(s): PTH, AIRE, CaSR, GNA11

 

EXTENDED HYPO-PARATHYROIDISM PANEL - PHENOTYPES

 

Hypoparathyroidism, Autosomal Dominant ✚ Autoimmune Polyendocrine Syndrome, type I, with or without reversible metaphyseal dysplasia ✚ Hypoparathyroidism,familial isolated ✚ Hypoparathyroidism, sensorial deafness, andrenal disease ✚ Pseudohypoparathyroidism, type IB ✚ Pseudohypoparathyroidism, type IA ✚ Pseudopseudohypoparathyroidism

 

Gene(s): PTH, AIRE, GCM2, GATA3, CaSR, STX16, GNA11, GCM1

 


Turn-Around Time: 5-6 weeks.