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Next-generation sequencing 

Large-scale parallel re-sequencing of genomic segments on an automated robotic platform is increasingly the method of choice for mutation screening in large genes and/or in groups of genes whose mutations cause similar disorders. It may also be used for high-throughput analysis of single genes with high rates of referral.

Gene panels

Panels of genes currently tested at WRGL:

  • Albinism and nystagmus
  • Aortopathy/Marfan syndrome
  • Disorders of sexual development
  • Early infantile epileptic encephalopathy
  • Hereditary breast and ovarian cancer
  • Lynch syndrome
  • Noonan syndrome
  • Primary ciliary dyskinesia

Full details are provided on our NGS service list.

Clinical exome sequencing

Exome sequencing is not currently
offered at WRGL, but is under
development.

Page Last Updated: 12/11/2018 08:14 
Printed from Salisbury NHS Foundation Website http://www.salisbury.nhs.uk