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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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