guidebook. - Fanconi Anemia Research Fund

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Fanconi Anemia: Guidelines for Diagnosis and Management
Complementation groups: When a mutant (or defective)
cell is able to restore normal function to (or
complement) another defective cell, the mutations in
those cells are said to be in different complementation
groups. That means the mutations are in different genes.
If a mutant or defective cell is not able to restore normal
function to another defective cell, the mutations are
said to be in the same complementation group (in other
words, in the same gene). 2
Complete blood count (CBC): Gives the number, and/
or percentage, and/or characteristics of certain blood
cells, primarily white cells, red cells, and platelets.
Computed tomography (CT, aka CT scan): An imaging
method that uses x-rays to create cross-sectional
pictures of the body. 5
Consanguinity: Relationship by blood via descent
from the same ancestor, and not by marriage or affinity.
Cortisol level: A blood test that measures the amount
of cortisol, a steroid hormone produced by the adrenal
cortex in response to a hormone called ACTH (produced
by the pituitary gland). Cortisol levels are often
measured to evaluate how well the pituitary and adrenal
glands are working. 5
Creatinine: The creatinine blood test is usually ordered
along with a BUN (blood urea nitrogen) test to assess or
monitor kidney function.
Cryptorchidism: The condition that occurs when one
or both testicles fail to descend into the scrotum before
birth. 5
Culture: A specimen of blood, urine, sputum or stool
which is taken and grown in the laboratory. This culture