Category: Pediatrics

Prader Willi/Angelman Syndromes – Panel

FGFR3 G380R

Hypochondroplasia – FGFR3 Gene Mutations

SRY (Sex determining Region-Y)

Beta Thalassemia – Common Mutations HBB Gene

Mucopolysaccharidosis Type III A, Sanfilippo Syndrome type A

Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome

RETT Syndrome

Cystic Fibrosis – 34 mutations

Galactosemia – Most Mutations