How to check MTHFR Genes and other useful tests for preconception and pregnancy?

Knowing if you have the MTHFR gene mutation is so important when it comes to preparing to conceive. You can easily test your MTHFR gene and folate levels but there are also other vital blood tests that will highlight. How well your body is using your folate, as well as other key nutrients that are important for a healthy and thriving pregnancy.


  • MTHFR Gene Test

As we discussed yesterday, The MTHFR gene converts the folate that you eat into the active folate your body needs for creating healthy DNA.

There are 3 main ways you can be tested for the MTHFR gene

     – MTHFR Gene Test – Blood test:

The most common and covered by insurance

Ask your doctor or health practitioner to order it for you. Simple and easy. I use Spectracell Labs, here, in the US. They test for these two MTHFR variant

  • MTHFR C677T
  • MTHFR A1298

     – MTHFR Gene TestThe buccal swab

There are many companies that offer a buccal swab. This is a swab that collects a sample of saliva from the cheeks/ mouth. This is a great option for babies, small children or those with needle phobias.

      – In Depth DNA testing

When it comes to more in-depth genetic testing, there are some other labs around. The most popular is 23andMe.

They offer reasonably priced extensive genetic testing for those people (starting at $99) with serious health issues who wish to know more than the basics or for proactive people who want to optimize their health.  For those of you with multiple miscarriages in the past, this may be the best option. I recommend when ordering the test to opt-out from research, so you are sure that your DNA sample won’t be stored and used in the future. To order your 23andMe kit click here

This test screens thousands of your genes and gives you so much information, MTHFR genes included. I strongly recommend this testing if you are currently struggling to fall pregnant (e.g. have had several miscarriages or have idiopathic infertility), have a history of chronic illness, or a family history of infertility.

Other tests I would recommend

  • Folate

With several different ways to test folate though blood, it is best to test Red Blood Cell Folate (RBC Folate) where you can, for an insight into your current folate levels. Folate levels can still be low even without an MTHFR gene mutation if you do not consume enough folate through your diet, or your gut is not absorbing it or it is unable to enter your cells for use (which will show high folate levels in your bloods). All of these blocks can affect folate levels.

  • Complete Blood Count (CBC) or FBC (Full Blood Count)

A CBC is a broad group of tests that will generally examine markers for anemia, inflammation and infection (mainly red blood cell markers and white blood cell makers).

As anemia can be caused by either low iron, folate or B12, a CBC provides interesting information in regards to how well your body is activating and using your folate. Folate is needed to make your Red, White Blood cells and Platelets.

  • Complete metabolic panel (CMP)

This is a group of tests assessing your Liver and Kidney health, your electrolyte balance, key enzymes levels, cholesterol and lipids.

This test can show how well your liver is functioning, and how you metabolize your lipids and cholesterol, all of which could be reduced if you have a MTHFR mutation.

  • Homocysteine

Homocysteine is a marker of inflammation connected to your MTHFR gene and folate levels. If it is too high or too low it will affect your ability to use active folate. Higher levels increase the risk of clot formation/ thrombophilia’s potentially involved in Recurrent Pregnancy Loss.

It is a great marker to see how much B12 and folate the body really has, and how it is using it.

  • Iron

Iron is really important when it comes to preconception, because the development of the baby’s red blood cells (RBC’s) relies on it. When checking for anemia you need to assess not only your iron level but also your Folate and Vitamin B12.

  • Vitamin B12

Vitamin B12 is necessary if your body want to use Folate. Early detection of Vitamin B12 deficiency is done with a MMA urine test (Methyl Malonic Acid). MMA will be found in excess in urine if you are deficient in B12. Serum Vitamin B12 is unreliable

  • Zinc

Zinc is crucial for cell function, healthy sperm and a strong immune system (and development of baby’s immune system). Healthy level of zinc helps keep you relaxed.

‘Plasma zinc’ is the best way to test zinc levels.

  • Copper

Research has shown that high copper levels are linked with post-natal depression. Copper levels naturally rise during pregnancy, so if your levels are high before you fall pregnant, it could be setting you up for post-natal depression. Important to know: zinc and copper have an antagonistic relationship so if your zinc is low, it may be causing your copper levels to increase.

‘Serum copper’ is the optimal form of copper to measure.

  • Iodine

Iodine is crucial for the health and development of your baby’s brain/ nervous system, making this another crucial test to complete during your preconception phase. It is usually tested in urine.

Of course, your doctor will consider any necessary hormonal or fertility specific testing if needed.

Talk with your doctor or health practitioner about completing these tests for preconception nutrition, and you will be making great steps toward preparing your body for pregnancy.

Adapted from mthfr support Australia

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