MCAD Deficiency DNA Test

Are you a genetic carrier for MCAD deficiency? Find out with this DNA Test.

  • Detects four variants in the ACADM gene which cause MCAD deficiency
  • Carrier screening test intended for couples who are planning to become pregnant
  • Determine the risk of your child inheriting MCAD deficiency
  • 100% private and confidential online results

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Detailed Description

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited metabolic disease caused by the abnormal breakdown of certain fats, which affects energy production in the body. People with MCAD deficiency experience dangerously low blood sugar levels (hypoglycemia), especially during periods without food when the body relies more on the breakdown (metabolism) of fats to generate energy.

The MCAD enzyme is required to properly break down medium-chain fatty acids. People with MCAD deficiency make lower levels of this enzyme. As a result, medium-chain fatty acids cannot be properly broken down and converted to energy. This results in an accumulation of medium-chain fatty acids, and a reduced fatty acid energy supply.

Take this test to find out if you are a genetic carrier of an ACADM variant and are at risk of passing it to your children.

The Genetics

MCAD deficiency is caused by genetic variation in the ACADM gene. Affected indivdiuals produce a MCAD enzyme with lower activity, thereby affecting the ability to break down medium-chain fatty acids. This leads to a reduction in energy production and a buildup of medium-chain fatty acids.

MCAD deficiency is inherited in an autosomal recessive pattern, which means two defective copies of the ACADM gene must be inherited in order for the disease to manifest.

Variants Tested

This test detects four genetic variants in the ACADM gene which cause MCAD deficiency.

  • rs121434280 C (Y42H)
  • rs77931234 G (K304E)
  • rs373715782 T (R181C)
  • rs121434281 T (S220L)

Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.

Signs and Symptoms

The following symptoms are usually seen in affected infants and children:

  • Very low blood sugar (hypoglycemia)
  • Lethargy
  • Vomiting
  • Seizures
  • Breathing difficulties
  • Organ damage (particularly liver and brain) due to a buildup of medium-chain fatty acids
  • Severe hypoglycemia can lead to coma and death

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.