NEXT GENERATION SEQUENCING

NEXT GENERATION SEQUENCING

CLINICAL EXOME SEQUENCING

Clinical Exome Sequencing is a test for identifying disease-causing DNA variants, within the 1% of the genome. It codes for proteins (exons) or flanks the regions, which code for proteins (splice junctions).  This test is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders.

Clinical exome includes ~6,700 clinically relevant genes with known associated clinical phenotypes and is reported to be clinically relevant in OMIM and/or HGMD. Around 4,000 genes within this panel have ~100% coverage in coding regions.

CLINICAL EXOME SEQUENCING

Disorders covered with Clinical Exome

  • Metabolic

  • Neurological

  • Reproductive

  • Malformative

  • Ophthalmological

  • Oncogenetic

  • Bone, skin & immunological

  • Cardiovascular

  • Ear, nose & throat

  • Nephrological

  • Hematological

  • Vascular

  • Endocrine

  • Gastrointestinal

  • Musculoskeletal

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