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.
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