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Appendix C

Selected Proficiency Testing Programs and Interlaboratory Sample Exchange Programs for Molecular Genetic Testing for Heritable Diseases and Conditions

College of American Pathologists (CAP)*

Proficiency Testing

Sample type: purified DNA

  • BRCA1 and BRCA2 genes (familial breast and ovarian cancer)
  • Canavan disease
  • Nonsyndromic hearing loss and deafness (GJB2- [connexin 26-]related DFNA 3)
  • Cystic fibrosis
  • Duchenne muscular dystrophy, Becker muscular dystrophy
  • Factor V Leiden thrombophilia
  • Familial dysautonomia
  • Fragile X syndrome
  • Friedreich ataxia
  • Hereditary hemochromatosis
  • Sickle cell disease
  • Huntington disease
  • MTHFR (5,10-methylenetetrahydrofolate reductase gene)
  • Multiple endocrine neoplasia type 2 (RET gene)
  • Myotonic dystrophy
  • Prader-Willi syndrome, Angelman syndrome
  • Prothrombin thrombophilia
  • RHD genotyping
  • Spinal muscular atrophy
  • Spinocerebellar ataxia
  • Tay-Sachs disease

Pharmacogenetic Proficiency Testing

Sample type: purified DNA

  • CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9 gene)
  • CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19 gene)
  • CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6 gene)
  • UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1 gene) (Gilbert syndrome)
  • VKORC1 (vitamin K epoxide reductase complex, subunit 1 gene)

CDC Newborn Screening Quality Assurance Program†

Proficiency Testing

Sample type: dried blood spots

Proficiency testing is available for DNA-based detection of cystic fibrosis mutations

EuroGentest§

External Quality Assessment

Sample types: blood spots, purified DNA, lyophilized human blood plasma, and serum

External quality assessments are similar to proficiency testing in the United States. Assessments are provided by one or more individual programs in Europe and facilitated by EuroGentest.

  • ACE (angiotensin-converting enzyme gene)
  • Adenomatous polyposis of the colon (APC gene)
  • Congential adrenal hyperplasia
  • Alpha-1 antitrypsin inhibitor
  • ApoB-100 (apolipoprotein B-100) genotyping
  • ApoE (apolipoprotein E); ApoE2, ApoE3, ApoE4
  • BRCA1 and BRCA2 genes (familial breast and ovarian cancer)
  • CETP (cholesteryl ester transfer protein) genotyping
  • Charcot-Marie-Tooth disease
  • Cystic fibrosis
  • Duchenne muscular dystrophy, Becker muscular dystrophy
  • Factor V Leiden thrombophilia
  • Factor XIII deficiency
  • Fragile X syndrome
  • Friedreich ataxia
  • GP IIb/IIIa (glycoprotein IIb genotyping)
  • Hemophilia A (factor VIII)
  • Hemophilia B (factor IX)
  • Hereditary hemochromatosis (HFE)
  • Hereditary nonpolyposis colon cancer (HNPCC)
  • Huntington disease (HD gene)
  • Lactose intolerance
  • Maturity onset diabetes of the young (MODY)
  • Mitochondrial disorders
  • MTHFR (5,10-methylenetetrahydrofolate reductase gene)
  • Multiple endocrine neoplasia type 2 (MEN 2)
  • Myotonic dystrophy
  • Phenylketonuria
  • Plasminogen activator inhibitor gene (PAI-1)
  • Prader-Willi syndrome, Angelman syndrome
  • Prothrombin thrombophilia
  • Retinoblastoma
  • Spinal muscular atrophy
  • Spinocerebellar ataxia
  • Thalassaemia, alpha and beta
  • TPMT (thiopurine S-methyltransferase gene)
  • UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1 gene)
  • Variegate porphyria
  • von Hippel-Lindau syndrome
  • von Willebrand disease
  • Wilson disease
  • Y chromosome microdeletions (AZF and DAZ genes)

Pharmacogenetic External Quality Assessment

  • BCHE (butyrylcholinesterase gene)
  • CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6 gene)
  • GHR (growth hormone receptor)
  • UGT1A6 (UDP glucuronosyltransferase 1 family, polypeptide A6 gene)

Methodological External Quality Assessment

  • DNA sequencing
  • Mutation scanning
  • Qualitative polymerase chain reaction

CAP Registry Service for Genetic Testing

Interlaboratory Exchange

The CAP registry service is an Internet-based service that facilitates contact among genetic testing laboratories that perform less frequently performed genetic tests. Laboratories enroll online; when CAP identifies three laboratories that are testing for the same genetic disorder, CAP facilitates communication for making exchange arrangements. The CAP/ACMG Biochemical and Molecular Genetics Committee reviews the results and procedures and makes comments in the Molecular Genetics Survey's Participant Summary Report regarding the overall performance.

Association for Molecular Pathology (AMP)**

Interlaboratory Exchange

AMP facilitates sample exchanges between laboratories through the AMP listserv (CHAMP). Laboratories seeking others to evaluate performance on specific analytes contact one another via the listserv. Laboratories are responsible for establishing testing parameters and facilitating exchange of specimens and test results.

* College of American Pathologists. 2008 surveys & anatomic pathology education programs. Available at http://www.cap.org/apps/docs/proficiency_testing/surveys_catalog/2008_full_catalog.pdf.

† CDC. Newborn Screening Quality Assurance Program; 2007. Available at http://www.cdc.gov/labstandards/nsqap.htm.

§ EuroGentest. Harmonizing genetic testing across Europe; 2008. Available at http://www.eurogentest.org/news/db/news/416/index.xhtml.

College of American Pathologists. Registry service for genetic testing. Available at http://www.cap.org.

** Association for Molecular Pathology. CHAMP listserv. Available at http://www.amp.org/membership/champ.htm.