Part III EVALUATION OF GENETIC TESTING Figures text
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Figure1: The number of participants for components of the quality assurance program in 1998.
This bar chart shows an x axis for varying components listed in the following table, and a y axis showing the number of participants, from 0 to 150 in increments of 25. There are two different types of bars: black bars show the relative numbers of performance evaluation participants separated into component type, while white bars show the relative numbers of quality control participants separated by component type. Three components, Biotinidase, GALT, and Hemoglobins, only show black bars for numbers of performance evaluation participants.
Enriched Concentrations (mg/dL whole blood) |
Performance Evaluation Participants | Quality Control Participants |
---|---|---|
Thyroxine | 65 | 55 |
Thyroid-Stimulating Hormone | 122 | 122 |
Phenlyalanine | 126 | 125 |
Total Galactose | 50 | 40 |
17-QHP | 45 | 35 |
Leucine | 30 | 25 |
Methionine | 23 | 20 |
Biotinidase | 40 | 0 |
GALT | 60 | 0 |
Hemglobins | 53 | 0 |
Figure 2: Comparison of mean reported concentrations by method for phenylalanine quality control materials.
Methods
A. Flourometric Manual
B. Bacterial Inhibition
C. Flouro Cont Flo, Kit
D. Flouro Cont Flo, In-house
E. Colorimetric
F. Isolab
G. HPLC
Mean Reported Concentrations (mg/dL wholeblood)012345678910111218 17 16
15
14 13
12 11
10
9
8 7
6
A, C, D, E
5
4
3 2
1 0
Figure 3: The summary of performance evaluation errors by domestic and foreign laboratories in 1998.
Estimated number of Errors | ||||
---|---|---|---|---|
Transcription Errors | False-positive Misclassifications | False-Negative Misclassifications | ||
Congenital Hypothyroidism | Domestic |
1
|
5
|
9
|
Foreign |
5
|
12
|
16
|
|
Phenylketonuria | Domestic |
2
|
3
|
0
|
Foreign |
12
|
36
|
41
|
|
Galactosemia | Domestic |
0
|
0
|
1
|
Foreign |
5
|
6
|
8
|
|
Congenital Adrenal Hyperplasia | Domestic |
0
|
0
|
0
|
Foreign |
6
|
10
|
14
|
|
Maple Syrup Urine Disease | Domestic |
0
|
1
|
0
|
Foreign |
5
|
11
|
15
|
|
Homocystinuria | Domestic |
0
|
10
|
0
|
Foreign |
1
|
5
|
7
|
|
Biotindase Deficiency | Domestic |
5
|
6
|
8
|
Foreign |
11
|
15
|
0
|
Figure 4: The length of time that leftover newborn screening dried-blood-spot specimens are kept by state screening programs.
Indefinitely
13 months to 23 years
7 to 12 months
3 to 6 months
Less than 3 months
Indefinitely13 months to 23 years7 to 12 months3 to 6 monthsLess than 3 monthsCalifornia
Delaware
South Carolina
Maine
Massachusetts
WashingtonFlorida
Indiana
Minnesota
Maryland
Michigan
New Hampshire
New Jersey
North Carolina
Rhode Island
VermontAlaska
Arkansas
Hawaii
Idaho
Nevada
Oregon
WisconsinAlabama
Arizona
Connecticut
Colorado
Illinois
Kentucky
Mississippi
Missouri
New Mexico
New York
Pennsylvania
Tennessee
Texas
Utah
Virginia
West Virginia
WyomingGeorgia
Iowa
Kansas
Louisiana
Montana
Nebraska
North Dakota
Ohio
Oklahoma
South Dakota