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

Al Jalila Children's Specialty Hospital

Al Jaddaf - Dubai United Arab Emirates

800 AJCH (8002524)
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