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Appendix C: Sources of Reference Materials and External Quality Assessment Programs for Biochemical Genetic Testing and Newborn Screening
|
Organization |
External quality assessment and proficiency testing |
Quality control |
||
|---|---|---|---|---|
|
Sample type |
Analytes |
Frequency |
||
|
CDC Newborn Screening Quality Assurance Program |
Dried blood spots |
Analytes detected for >30 biochemical markers covering all disorders listed in the recommended uniform screening panel |
For U.S. newborn screening laboratories: four testing events per year, including three events each consisting of five challenge samples and one event consisting of 25 challenge samples For international newborn screening laboratories: three testing events per year, each consisting of five challenge samples |
This program provides dried blood spot quality control materials for 28 biochemical markers encompassing all disorders listed in the recommended uniform screening panel. |
|
College of American Pathologists |
Plasma |
Acylcarnitines: qualitative and quantitative |
Two testing events per year, each consisting of five challenge samples |
This program does not provide reference or quality control materials for biochemical genetic testing or newborn screening. |
|
Serum |
Carnitine, qualitative and quantitative |
|||
|
Plasma or urine |
Amino acids: qualitative and quantitative |
|||
|
Urine |
Glycosaminoglycans (mucopolysaccharides): qualitative and quantitative Organic acids: qualitative and quantitative |
|||
|
European Research Network for Evaluation and Improvement of Screening, Diagnosis, and Treatment of Inherited Disorders of Metabolism (ERNDIM) |
Lyophilized, spiked human serum |
30 relevant amino acids |
One shipment of eight samples per year |
This program also provides previously analyzed proficiency test samples as quality control materials. |
|
Lyophilized, spiked human urine |
Special assays in urine: 5-hydroxyindoleacetic acid (5-HIAA), free carnitine, creatine, creatinine, galactitol, guanidinoacetate, homovanillic acid (HVA), lactic acid, mucopolysaccharides, orotic acid, pipecolic acid, sialic acid, and succinylacetone |
One shipment of eight samples per year |
||
|
Lyophilized, spiked human serum |
Special assays in serum: 3-hydroxybutyrate, 7-dehydrocholesterol, very long-chain fatty acids (C22/24 and 26:0), free carnitine, creatine, galactose, guanidine acetic acid, homocysteine, lactic acid, methylmalonic acid, phytanic acid, pipecolic acid, pristanic acid, and pyruvic acid |
One shipment of eight samples per year |
||
|
Lyophilized, spiked human urine |
Quantitative organic acids in urine: 15 analytes incorporated, but each year different choice made |
One shipment of eight samples per year |
||
|
Lyophilized, spiked human urine |
Purines and pyrimidines in urine: 5-hydroxymethyluracil, adenine, adenosine, 5-aminoimidazole-4-carboxamide ribonucleotide, creatinine, deoxyadenosine, deoxyguanosine, deoxyinosine, deoxyuridine, dihydrothymine, dihydrouracil, guanosine, hypoxanthine, inosine, orotic acid, orotidine, pseudouridine, thymidine, thymine, uracil, uric acid, and xanthine |
One shipment of eight samples per year |
||
|
European Research Network for Evaluation and Improvement of Screening, Diagnosis, and Treatment of Inherited Disorders of Metabolism (ERNDIM) |
Lyophilized protein, liquid white blood cell pellets |
Cystine in white blood cells, related to protein |
Eight pairs of protein and white blood cell pellets per year |
This program also provides previously analyzed proficiency test samples as quality control materials. |
|
Lyophilized homogenates of leukocytes and Epstein-Barr virus–transformed lymphoblastoid cells |
Lysosomal enzymes: galactose-6-sulfate sulfatase, b-galactosidase, b-glucuronidase, b-hexosaminidase A, b-hexosaminidase A+B, a-iduronidase, galactosylceramidase, sphingomyelinase, b-mannosidase, and a-N-acetylglucosaminidase |
One shipment of eight samples per year |
||
|
Heat-treated human urine |
Qualitative organic acids in urine: analytes dependent on specific disorders |
Three shipments of three samples per year |
||
|
Dried blood spots on filter paper |
Qualitative blood spot acylcarnitine, analytes dependent upon disorder |
Two shipments of three samples per year |
||
|
Lyophilized human plasma/serum |
Congenital disorders of glycosylation, sialotransferrin isoforms |
Six samples per year |
||
|
Human urine |
Urine mucopolysaccharides: quantitative (related to creatinine) and qualitative analysis |
One shipment of six samples per year |
||
|
Reference Institute for Bioanalytics (Germany) |
Dried blood spots |
Neonatal thyroid stimulating hormone and 17-hydroxyprogesterone screening |
Four times per year, each consisting of eight samples |
This program does not provide reference or quality control materials for biochemical genetic testing or newborn screening. |
|
Sources: College of American Pathologists. 2011 surveys & anatomic pathology education programs. Northfield, IL: College of American Pathologists. Available at http://www.cap.org/apps/docs/proficiency_testing/2011_surveys_catalog.pdf. Accessed February 2, 2012. CDC. Laboratory standardization and quality assurance programs: newborn screening quality assurance program. Atlanta, GA: CDC; 2012. Available at http://www.cdc.gov/labstandards/nsqap.html. Accessed February 2, 2012. European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM). ERNDIM schemes. Sheffield, UK: ERNDIM, 2012. Available at http://cms.erndimqa.nl/Home.aspx. Accessed February 7, 2011. European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM). Control materials. Sheffield, UK: ERNDIM, 2012. Available at http://cms.erndimqa.nl/control-materials.aspx. Accessed February 2, 2012. Reference Institute for Bioanalytics (Referenzinstitut für Bioanalytik). Survey programs 2012. Bonn, Germany: Stiftung für Pathobiochemie und Molekulare Diagnostik; 2012. Available at http://www.dgkl-rfb.de/index_e.shtml. Accessed February 2, 2012. |
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