PGTune™ A cannot detect single gene mutations:
PGTune™ A does not analyze specific genes and cannot detect conditions caused by single gene mutations, such as Sickle Cell anemia, cystic fibrosis or Tay-Sachs disease. Any known genetic conditions in the family should be discussed with your fertility doctor.
PGTune™ A cannot detect uniparental disomy (UPD):
UPD is the presence of two copies of a given chromosome from one parent and none from the other. UPD for certain chromosomes is associated with particular genetic syndromes or medical, cognitive or physical disabilities. PGTune A is unable detect UPD.
PGTune™ A cannot detect very small imbalances:
PGTune™ A is designed to test for aneuploidy (whole chromosomes that are extra or missing). It can also detect partial aneuploidy, including deletions, duplications, and unbalanced translocations, depending on the size of the chromosome segment involved. Extra or missing chromosome segments, smaller than 10 MB, usually cannot be detected.
PGTune™ A cannot detect balanced structural abnormalities:
PGTune™ A cannot detect structural abnormalities unless there is an imbalance in genetic material. There are multiple chromosomal abnormalities, including but not limited to balanced translocations and inversions.
PGTune™ A cannot detect polyploidy:
PGTune™ A cannot detect polyploidy, in which there is a numerical change in a whole set of chromosomes. Polyploidy may arise from fertilization of an egg by more than one sperm (polyspermia), fertilization of a diploid egg, or fertilization by a diploid sperm.
PGTune™ A cannot detect all birth defects:
PGTune™ A cannot detect all potential birth defects and can only detect birth defects caused by aneuploidy and imbalances greater than 10 MB. There is a 3-5% risk in the general population of birth defects. These may be caused by genetic and/or non-genetic etiologies.