Fanconi anemia refers to a group of disorders characterized by physical abnormalities, organ defects, bone marrow failure, and increased cancer risk. These disorders result from disruptions to cellular pathways involved in repairing damaged DNA.
There are multiple different types of Fanconi anemia. Fanconi anemia group C is caused by variants in the FANCC gene. Fanconi anemia group C is most common in individuals of Ashkenazi Jewish heritage, where approximately 1 in 80 people carry one copy of a defective FANCC gene.
Take this test to find out if you are a genetic carrier of a FANCC variant and are at risk of passing the variant to your children.
This test detects three genetic variants in the FANCC gene. This gene provides instructions for a component of the Fanconi anemia pathway, which is involved in repairing damaged DNA.
Individuals affected by Fanconi anemia group C produce a defective FANCC protein, and are unable to properly repair DNA damage. This affects the function of cells, particularly cells that divide faster, such bone marrow cells.
Fanconi anemia group C is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the FANCC gene for symptoms to occur.
This test detects three genetic variants in the FANCC gene which account for more than 99% of Fanconi anemia group C-associated variants in individuals of Ashkenazi Jewish descent.
- rs104886456 (IVS4+4A>T)
- rs104886457 (R548X)
- rs104886459 (322delG)
Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.
Physical abnormalities are present in 60%-75% of individuals with Fanconi anemia, including:
- Short stature
- Developmental delays
- Abnormal skin pigmentation
- Malformation of the eyes or ears
- Defects in the kidney and urinary tract
- Reduced fertility
Other symptoms include:
- Impaired bone marrow function
- Decreased production of all blood cells (aplastic anemia), leading to extreme tiredness, frequent infections, and bleeding problems
- Increased susceptibility to cancer
- Sensitivity to DNA damaging agents present in radiation and chemotherapy
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.