Whole Exome Sequencing, should be considered for:

• Complex presentations where multiple, non-overlapping features are involved
• Genetically heterogeneous disorders for which no genetic test is available, and/or
• Disorders with highly suspected genetic etiology but exhaustive targeted genetic testing did not reveal an answer

Genome-wide, SNP-based chromosomal microarrays, should be considered for children with:

• Developmental delays
• Intellectual disability
• Multiple congenital anomalies, and/or
• Autism spectrum disorders

Single and Multi-gene next generation sequencing disease panels for several paediatric disorders, including but not limited to:

Neurodevelopmental disorders, such as:

• Epilepsy
• Neuromuscular disease
• Angelman-like/Rett syndrome
• Kabuki syndrome
• Rubinstein Taybi syndrome
• Noonan syndrome
• Cornelia de Lange
• Neurofibromatosis
• CHARGE syndrome

Hearing Loss-related disorders, such as:

• Non-Syndromic Hearing Loss
• Alport syndrome
• Stickler syndrome
• Waardenburg syndrome
• Marshall syndrome
• Branchio-oto-renal syndrome
• Usher syndrome
• Perrault syndrome

Gastroenterology disorders, such as:

• Very Early Onset Inflammatory Bowel Disease (VEO-IBD)
• Congenital diarrhea
• Cholestasis
• Pancreatitis
• Alagille syndrome

Pulmonary disorders, such as:

• Cystic Fibrosis
• Pulmonary hypertension
• Neonatal Respiratory distress
• Primary Ciliary Dyskinesia

Skeletal and connective tissue disorders, such as:

• Marfan syndrome
• Craniofacial disorders
• Craniosynostosis
• Osteogenesis Imperfecta
• Connective tissue disorders
• Achondroplasia

Endocrinology disorders, such as:

• Monogenic diabetes
• Monogenic obesity
• Glycogen Storage disorders
• Ketotic hypoglycemia
• Short stature
• Hyperinsulinism

Immunology and rheumatology disorders, such as:

• Humoral dysfunction
• Severe combined Immunodeficiency
• Complement deficiency
• Auto-inflammatory disease

*All the above panels can include exon-level copy number analysis (exon-level microarrays)

Fragment analysis – including targeted testing for:

• Fragile X repeat expansion
• Prader willi/Angelman methylation
• Spinal Muscular Atrophy (SMA)
• DiGeorge syndrome (22q11.2)
• Williams syndrome
• Smith Magenis syndrome