Infertility Testing Laboratories, Reproductive Testing laboratory

Clinical Indications for Assure™ SNP Microarray

At least 15% of all recognized pregnancies end in spontaneous miscarriage with 60% caused by a chromosome abnormality.  Unfortunately, some couples experience recurrent pregnancy loss, which is usually defined as more than three spontaneous miscarriages. Often no explanation is found and many such couples go on to have successful pregnancies. However, in 3% to 6% one partner is found to carry a chromosome rearrangement that predisposes to severe imbalance through malsegregation at meiosis.  Consequently, it is now standard practice to offer chromosome analysis to all such couples.  These couples can benefit from a comprehensive chromosome analysis that includes microarray.  Microarray can identify couples at increased risk for recessive disease.  Microarray can also identify individuals that are carrying a chromosomal abnormality with variable penetrance and phenotypic expression or low level mosaicism.

Specimen Requirements

Sample Type Chromosome
CMA Direct
Peripheral Blood 5-10 ml 5-10 ml
A completed requisition and consent form should be sent with each sample. 

Reporting of Results

  • Copy number gain/losses of >50Kb within clinically significant genes or regions
  • Copy number loss of >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM annotated gene or within a region of clear clinical significance
  • Identification of UPD and consanguinity