Expanded Carrier Screening
Checks both partners for recessive conditions they could pass on.
- Sample
- EDTA blood or buccal swab (both partners)
- Method
- NGS carrier panel
- Counselling
- Pre-test genetic counselling is required. Your clinic can provide it, or BioBloom can arrange it.
- Price
- On request
About this test
Expanded carrier screening across hundreds of recessive and X-linked conditions.
What the report contains
Carrier status across the panel, with couple risk highlighted where both partners share a condition.
Evidence and limitations
Expanded carrier screening is the ACMG-endorsed standard for identifying reproductive risk. Embryo polygenic scoring and immunogenetic adjuncts are active areas of research, best used within a specialist context.
Limitations
KIR-HLA-C is described by researchers in the field as too early for clinical intervention (Moffett 2016), and the ALIFE2 randomised trial found heparin did not improve live birth in inherited thrombophilia with recurrent loss. Embryo polygenic risk scoring has no established clinical utility and is not a routine test.
More in Carrier and reproductive risk
- KIR-HLA-C
Types maternal KIR and partner HLA-C, an emerging marker studied in implantation failure.
- Thrombophilias
Factor V Leiden and prothrombin variants, tested in selected cases.
Register your clinic
Registration includes onboarding and training for your team. We reply within two working days.