NMS Flashcards
1
Q
PKU
A
Phenyketinuria
2
Q
PKU is a defect in:
A
Defect in the enzyme Phenylalanine Hydroxylase (PAH)
3
Q
What does PKU cause
A
Irreversible neurological damage
4
Q
How are NMS testing done
A
Dried blood spot cards
5
Q
Purpose of NMS
A
population based: every newborn is assessed
Treatable neonatal diagnosis that can cause irreversible damage if not diagnosed
6
Q
NMS
A
Newborn Metabolic Screening
7
Q
CH
A
Congenital Hypothyroidism
tests Thyroid Stimulating Hormone (TSH)
8
Q
How is congenital hypothyroidism tested
A
Measured by radioimmunoassay
9
Q
RUSP
A
Recommended Uniform Screening Panel
10
Q
FI-TMS
A
Flow injection tandem mass spectrometry
11
Q
Advantages of Tandem Mass Spectrometry (Triple Quadrupole)
A
- High Sensitivity
- High Specificity
- Rapid Testing
- Inexpensive
12
Q
Limitation of TMS
A
Compounds with same Molecular weight
13
Q
Positive Predictive Value ***
A
