Usually one or both partners are known to carry pathogenic mutations which, if passed on to their children, would result in a severe genetic disorder.
If PGT-M is appropriate for a couple it is usually recommended by the Clinical Genetics service, and the couple is referred to a fertility clinic who will arrange the Feasibility Testing and the IVF treatment.
In most cases PGT-M is funded, although there may be a waiting list to begin the process.
Genetics - Molecular Pathology
Please store biopsies in a -80 freezer if they arrive out of hours.
Samples should be collected into 2.5uL of 1x PBS already aliquoted in a 0.2mL PCR tube. Please contact the laboratory at email@example.com if you require tubes.
PGT-M involves analysis of embryos produced during in vitro fertilisation (IVF) to identify embryos that carry gene mutations that cause severe genetic disorders. CHL uses a targeted analysis strategy for each couple, usually involving genotyping of microsatellite markers in linkage with the disease gene, plus direct mutation analysis if possible.
Prior to undergoing IVF, each couple must have a Feasibility Test so that it can be confirmed the mutations they carry can be detected in embryos, and to develop a strategy for the embryo analysis.
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