Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.

ABSTRACT:

Study question

Can a universal diagnostic test (Karyomapping) be applied for preimplantation genetic testing for multiple monogenic disorders (PGT-M) and what is the misdiagnosis rate?

Summary answer

Among 9020 cases of PGT-M, >1000 different disorders were diagnosed by Karyomapping; independent validation of >70% of cases did not detect a misdiagnosis.

What is known already

PGT-M, first performed in 1992, has been used for ∼40 000 clinical cases worldwide. A limiting factor in direct testing for disease mutations, however, is the need to design assays specific for each affected allele. Karyomapping, based on haplotype phasing using SNP microarrays, was developed in 2010 as a single, method tracing inheritance of any monogenic disorder. Karyomapping eliminates the imp

SUBMITTER: Schadwell A 

PROVIDER: S-EPMC12675417 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature