1
What is the reference range defined as in clinical lab testing?
Mean ± 2 standard deviations
Which two markers are commonly used to assess inflammation?
CRP and ESR
What is the restrictive hemoglobin threshold for transfusion in stable patients?
7 g/dL
In autosomal dominant inheritance, are heterozygotes affected?
Yes
Which thyroid hormone is the primary circulating form?
T4
What specimen type is used for a CBC?
EDTA whole blood.
What is bandemia?
A left shift in neutrophils.
Which inheritance pattern shows no male‑to‑male transmission and affects males more than females?
X‑linked recessive
What is the DeRitis ratio?
AST:ALT
What are the four cardinal signs of inflammation?
Rubor (Redness)
Calor (Heat)
Tumor (Swelling)
Dolor (Pain)
Bonus: Loss of Function
What type of chromosomal abnormality results from nondisjunction?
Aneuploidy
Name the three viable autosomal trisomies.
Trisomy 13, 18, and 21
What is heteroplasmy in mitochondrial disorders?
A mixture of wild‑type and mutant mtDNA
What does a Southern blot detect?
DNA
What RBC inclusion is seen in asplenia?
Howell‑Jolly bodies
What is the threshold effect in mitochondrial disease?
Disease manifests once mutant mtDNA exceeds a critical proportion
What type of translocation involves fusion of two acrocentric chromosomes?
Robertsonian Translocation
What is the carrier frequency formula for an autosomal recessive disease under Hardy‑Weinberg?
2pq
Which connective tissue fiber type provides stretch and recoil, and what protein is it primarily made of?
Elastic fibers, made of elastin
Which blot identifies proteins based on size and epitope binding?
Western Blot
What is uniparental isodisomy?
Two identical copies of a chromosome from one parent.
What is a dominant‑negative mutation?
A mutant allele interferes with the function of the wild‑type allele
What are the three steps of PCR?
Denaturation, annealing, elongation.
What histologic feature distinguishes malignant cells from benign ones?
Pleomorphism with hyperchromatic, irregular nuclei.
What is the LOD score threshold that indicates proof of linkage?
LOD > 3