Invitae Comprehensive Carrier Screen

Disorders Tested

Autosomal recessive inheritance

Most disorders we screen for are autosomal recessive disorders

  • You and your partner both need to be carriers of the same disorder for your child to be at increased risk
  • Most people don't know they are carriers until they've had carrier screening because carriers typically don't have symptoms
  • If both parents are carriers of the same disorder, there is a 1 in 4 chance that the baby will inherit the disorder
X-linked disorders carrier screening

We also screen for a small number of X-linked disorders

  • Females have two X chromosomes, while males have one X and one Y chromosome
  • X-linked inheritance means that the gene associated with the disorder is located on the X chromosome
  • Carrier females typically do not have symptoms because they have a working copy of the gene on their other X chromosome
  • Because they only have one X chromosome, males who inherit a single mutated gene will be affected by the disorder