Skip directly to local search Skip directly to A to Z list Skip directly to navigation Skip directly to site content Skip directly to page options
CDC Home

Part III
EVALUATION OF GENETIC TESTING


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.

  Estimated number of 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.

This chart shows an x axis of Enriched Concentrations (mg/dL whole blood), on a scale of 0 through 12. The y axis shows Mean Reported Concentrations (mg/dL whole blood). Seven different methods (listed below) are represented by seven different lines, and by the letters A through G in this table. All methods gave similar readings, and all methods show the y-intercept to be approximately 2.

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) 0 1 2 3 4 5 6 7 8 9 10 11 12
18
17
16
A, C, D, E
15
D
14
13
B, G
12
11
A, C, D, E
F
10
D
9
B, G
8
7
F
6

A, C, D, E

5
B, G
4
F
3
2
A, B, C, D, E, F, G
1
0

 

Figure 3: The summary of performance evaluation errors by domestic and foreign laboratories in 1998.

This chart shows an x axis of Number of Errors, and a y axis various diseases (listed in the following table). Three different types of errors are shown as different bars: transcription errors are shown as black bars, false-positive misclassifications are shown as white bars, and false-negative misclassifications are shown as gray bars. For each disease, the three types of errors are divided into domestic and foreign.

    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.

This graphic shows a map of the United States, where each state is represented by one of five shadings. The shadings represent the following five classifications of time that blood spots are saved by each state.

Indefinitely
13 months to 23 years
7 to 12 months
3 to 6 months
Less than 3 months

Indefinitely 13 months to 23 years 7 to 12 months 3 to 6 months Less than 3 months

California
Delaware
South Carolina
Maine
Massachusetts
Washington

Florida
Indiana
Minnesota
Maryland
Michigan
New Hampshire
New Jersey
North Carolina
Rhode Island
Vermont

Alaska
Arkansas
Hawaii
Idaho
Nevada
Oregon
Wisconsin


Alabama
Arizona
Connecticut
Colorado
Illinois
Kentucky
Mississippi
Missouri
New Mexico
New York
Pennsylvania
Tennessee
Texas
Utah
Virginia
West Virginia
Wyoming

Georgia
Iowa
Kansas
Louisiana
Montana
Nebraska
North Dakota
Ohio
Oklahoma
South Dakota





 

 


 

Contact Us:
  • Centers for Disease Control and Prevention
    1600 Clifton Rd. Atlanta, GA 30333 USA
    800-CDC-INFO (800-232-4636)
  • Additional information for Public Health Genomics is available on our contact page.
USA.gov: The U.S. Government's Official Web PortalDepartment of Health and Human Services
Centers for Disease Control and Prevention   1600 Clifton Rd. Atlanta, GA 30333, USA
800-CDC-INFO (800-232-4636) TTY: (888) 232-6348 - Contact CDC–INFO
A-Z Index
  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z
  27. #