Technology and Quality

Assay

• What sequencing methodology is used?
• Does Invitae offer deletion/duplication analysis?

Confirmation and interpretation

• Does Invitae confirm variants?
• Which variants get confirmed?
• How does Invitae confirm SNV and indel variants?
• How does Invitae confirm copy number variants (CNVs)?
• How does Invitae classify genetic variants?
• What are pseudodeficiency alleles?