Targeted and orthogonal molecular testing beyond next-generation sequencing.
Several clinically important variant classes are not reliably detected by short-read sequencing. Targeted and orthogonal methods address these, and also provide confirmation of sequencing findings.
Documented capability
MLPA and MS-MLPA for copy-number and methylation-sensitive analysis
Fragment analysis
Repeat-expansion testing
Real-time PCR
Targeted mutation testing for defined clinical indications
Selected HLA and susceptibility-associated marker testing
Selected autoinflammatory disease testing
Sanger sequencing for analysis and confirmation
This page is informational. It does not accept requests, samples, patient data or
genomic files, and provides no result lookup.