Diagnostic Techniques Flashcards
Pathology is involved in
70% of diagnoses
14 test/ everyperson/each year
How many different disciplines make up pathology?
19
Changes in chemical composition of body fluids
Clinical Biochemistry
Bodys immune system and its disorders
Immunology
Infection - bacterial, viral, fungi and parasites
Monitor response to treatment
Microbiology
blood cells study
Haematology
Diseased tisc/cells
Histopathology/Cytopathology
study of DNA
Genetics
genetically transmitted disorders
Why use lab test?
Inform Clinical Decision
Screening (detection), Diagnosis (confirmation/rejection of clinical diagnosis), Monitoring(natural history/response to treatment e.g. CRP: resolve infection; CD4 and viral load for HIV), Prognosis (prediction of course, outcome - tumour markers)
Why is correct info important?
Allows lab to produce right result on right patient at the right time
Allows clinicians to give right treatment on time
Which are essential information required on a sample?
10 Digit CHI no. Patients forename and surname Patient DOB Anatomical site Specimen type Investigations required Date and time of collection Relevant Clinical History
Prevent paracetamol induced liver damage.
N-acetylcysteine
Overdose of Paracetamol - High paracetamol + ALP + GGT (gamma-glutamyl transferase) level
Both ALP and GGT are elevated in disease of the bile ducts and in some liver diseases
Tendon Xanthomata
skin lesions caused by the accumulation of fat
associated with type II hyperlipidemia, chronic biliary tract obstruction, and primary biliary cirrhosis
Familial Hypercholesterolaemia
Diagnosis by Simon Broome Criteria Total Cholesterol (adult) >7.5mmol/L LDL Cholesterol (adult) >4.9mmol/L Tendon Xanthomata Family History
This patient fitted all the above criteria so a blood sample was sent away for genetic testing, looking specifically for mutations in the LDL receptor gene, which is responsible for the removal of LDL from the blood.
Genetic testing: FH mutations – LDLR gene, APOB gene and PCSK9 gene
The patient’s son (heterozygous) has a child with a heterozygous female, what is the chance of the child being homozygous for the condition?
1 in 4