Autosomal dominant or X-linked familial disorders often prompt prenatal testing for<unk> . This diagnosis may involve minimally invasive procedures, such as blood sampling or amniotic fluid sampling. Collected samples can be sequenced via common DNA testing methods, such as Sanger Sequencing, MLPA, or Southern Blot analysis, to look for variations on relevant genes connected to the disorder.
Germline mosaicism
Uniparental disomy
Robertsonian translocation
Genomic imprinting
Structural inheritance
Aneuploidy
Germline mutation
Trisomy