Panels

A

• Adrenaleukodystrophy
• Alagille
• Alport
• Angelman syndrome/Rett syndrome
• Atypical hemolytic uremic syndrome
• Auto-inflammatory disease

B

• Biotinidase deficiency
• Branchio-oto-renal

C

• CADASIL
• CHARGE
• Cholestasis
• Chronic granulomatous disease
• Complement deficiency
• Comprehensive Pulmonary Vascular Disease
• Congenital Diarrhea
• Connective Tissue Disorders
• Cornelia de Lange
• Craniofacial disorder
• Craniosynostosis
• Cystic fibrosis

D

• DFNB1
• Diarrhea

F

• Fever
• FMR1 CGG repeat expansion analysis

G

• Galactosemia
• Glycogen Storage Disease

H

• Humoral dysfunction
• Hyperinsulinism

K

• Kabuki
• Ketotic Hypoglycemia

M

• Marfan syndrome
• Marshall
• Maturity onset diabetes of the young
• MSUD

N

• Neonatal respiratory distress
• Noonan syndrome

O

• Obesity
• Osteogenesis imperfecta
• Osteopetrosis

P

• Pancreatitis
• PKU
• Pneumothorax
• Primary ciliary dyskinesia
• Pulmonary hypertension
• Pulmonary Vascular
• Pulmonary Vascular disease

R

• Rapid Epilepsy
• Rubinstein Taybi

S

• Severe combined immunodeficiency
• Short Stature
• Stickler syndrome

W

• Waardenburg