Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Stefania ZampattiJulia MelaCristina PeconiGiulia PagliaroliStefania CarboniGiuseppe BarranoIlaria ZitoRaffaella CascellaGianluca MarellaFilippo MilanoMauro ArcangeliCarlo CaltagironeAntonio NovelliEmiliano GiardinaPublished in: Prenatal diagnosis (2018)
The implementation of RNA analysis in diagnostic algorithm can increase the sensitivity of carrier test for mothers of sporadic affected patients, permitting detection of mosaic status. A revision of analytical guidelines is needed in order to improve the recurrence risk estimation and support prenatal genetic counseling.
Keyphrases
- muscular dystrophy
- end stage renal disease
- duchenne muscular dystrophy
- newly diagnosed
- ejection fraction
- healthcare
- machine learning
- primary care
- pregnant women
- total knee arthroplasty
- chronic kidney disease
- peritoneal dialysis
- late onset
- nucleic acid
- hepatitis c virus
- gene expression
- quality improvement
- clinical practice
- copy number
- men who have sex with men
- mass spectrometry
- amyotrophic lateral sclerosis
- hiv testing
- loop mediated isothermal amplification