Description of Medical ServiceIt is now possible to screen for over 1000 genes using massively parallel sequencing (also known as next generation sequencing).The proposed medical service is reproductive carrier screening of over 1000 genes associated with autosomal recessive and X-linked conditions, to identify the carrier status of couples for autosomal recessive conditions and of women for X-linked recessive conditions, at pre-conception or early pregnancy. The eligible couples will have biological samples taken from them (usually blood or a mouth swab) from which DNA is extracted for analysis.
Description of Medical ConditionAutosomal recessive conditions occur when a mutation in the same gene is inherited from each parent. In other words, if the child only has one copy of a gene mutation inherited from one parent, he or she will not be affected but will be a carrier. If the parents are both carriers for a mutation in the same gene which is associated with an autosomal recessive condition (i.e. both of them have one normal copy and one copy of the gene with a mutation), their children will have 1 out of 4 chance of being affected by the condition.
In X-linked conditions the gene with the mutation is located on the X chromosome. Thus, if the mother is a carrier, her male offspring have a 50% chance of being affected. Female offspring have a 50% chance of inheriting the copy of the gene with the mutation, but are generally either not affected by the condition or are more mildly affected than a male with the mutation; thus the overall chance of having an affected child is close to 1 in 4. The father is not tested for X-linked conditions in the context of screening because he would be expected to be affected if he had a mutation in a gene on the X chromosome.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application Number/sNot Applicable
Application FormApplication Form (PDF 1315 KB)
Application Form (Word 333 KB)
Consultation SurveyConsultation Survey (PDF 588 KB)
Consultation Survey (Word 68 KB)