Carrier Screening by Genome Sequencing - 2250 genes

The first carrier screening test that utilizes Whole Genome Sequencing (WGS) to provide the most comprehensive genomic information before having children. 

Our test accurately identifies pathogenic and likely pathogenic variants.

The test uses specific pipelines for complex variants such as SMN1, FMR1, CYP21A2, and GBA genes ensuring accurate detection in one assay.

Test coverage: 2250 genes

(Autosomal recessive & X-linked genes)

Sample Required: Saliva swabs, blood in EDTA, dried blood spots

Reporting Time: 20 working days

Laboratory: Germany