The Fertility Dietician - Panel 4

Anti-mullerian hormone (AMH) is a marker associated with ovarian reserve. Decreased levels of AMH may indicate low ovarian reserve, whilst increased levels of AMH is often seen with polycystic ovarian syndrome (PCOS). Note that AMH is not predictive of chance of conceiving or time to pregnancy, nor can it reliably predict menopause timing for individual women.

MTHFR testing is a simple test that can identify genetic variations in the MTHFR gene. Two common variations in the MTHFR gene are known as C677T and A1298C. The C677T variation results in a reduction in MTHFR enzyme activity, leading to higher levels of homocysteine in the body. The A1298C variation is less well understood but may also result in reduced enzyme activity.

HLA-DQ2 is strongly associated with coeliac disease, an autoimmune disorder triggered by the consumption of gluten, found in wheat, barley, and rye. However, HLA-DQ2.2 does not appear to carry the same level of risk for coeliac disease as the more prevalent HLA-DQ2.5 allele.

The HLA-DQ2.5 allele is one of the primary genetic factors associated with coeliac disease. Approximately 90-95% of individuals with coeliac disease carry either one or two copies of the HLA-DQ2.5 allele.

Real time PCR for direct qualitative detection of HLA-DQ2 and DQ8 genes associated with coeliac disease.

Individuals who carry one or two copies of the HLA-DQ8 allele are at an increased risk of developing coeliac disease, but not all individuals with HLA-DQ8 will develop coeliac disease.