Eggs and embryos stop developing when TUBB8 mutations disrupt tubulin, causing infertility. Targeted sequencing, exome sequencing and PGT can confirm OMA17.
Infertility or repeated pregnancy loss can follow stalled maturation in Oocyte/Zygote/Embryo Maturation Arrest 19; genetic testing helps confirm the diagnosis.
Genetic variation influences how well peginterferon alfa-2a, alfa-2b and ribavirin clear chronic hepatitis C, shaping treatment choices and side-effect risk.
Variants in the IL28B gene, which makes interferon lambda, help predict response to peginterferon, ribavirin and telaprevir and guide how long therapy lasts.
Some patients clear hepatitis C on peginterferon alfa-2a while others do not; IL28B genotype is one factor linked to reaching a sustained virologic response.
Used against chronic hepatitis C, melanoma and some leukemias, peginterferon alfa-2b works better in some patients than others; DNA testing may help predict who.
Variants in CYP2C9, VKORC1 and CYP4F2 change how the body handles this oral anticoagulant, which is why a dose that suits one person may not suit another.
Micrognathia, glossoptosis and a cleft palate can make breathing and feeding difficult, and the underlying cause of this rare syndrome is still unknown.