College of American Pathologists


  This page and related links last reviewed on August 15, 2013


Laboratory Accreditation Laboratory Accreditation

The CAP/ACMG Biochemical and Molecular Genetics Resource Committee would like to remind all laboratory directors that they may request that qualified expert inspectors in specific specialty areas be appointed to inspection teams that will be doing the biennial on-site inspections. Lists of qualified inspectors for cytogenetic, biochemical, and molecular genetics are available from the Laboratory Accreditation Program at the CAP office in Northfield, Illinois.

AP Proficiency Testing CAP Proficiency Testing

Inherited Metabolic Diseases (IMD)

  • Mitochondrial DNA deletion syndromes (IMD1)
  • MCAD (IMD2)
  • Mitochondrial cytopathies (IMD3)

Molecular Genetics (MGL1)

  • Factor V Leiden
  • Fragile X
  • Hemochromatosis
  • Methylenetetrahydrofolate reductase (MTHFR)
  • Prader-Willi/Angelman Syndrome
  • Prothrombin

Molecular Genetics (MGL2)

  • Cystic fibrosis
  • DMD/Becker
  • Friedreich ataxia
  • Hemoglobin S/C
  • Huntington disease
  • Myotonic dystrophy
  • RhD
  • Spinal muscular atrophy
  • Spinocerebellar ataxia

Molecular Genetics (MGL3)

  • BRCA1/2
  • Multiple endocrine neoplasia type 2 (MEN2)
  • Connexin-26

Molecular Genetics (MGL4)

  • Bloom syndrome
  • Canavan
  • Familial dysautonomia
  • Fanconi anemia, complementation group C
  • Gaucher disease
  • Glycogen storage disease, type Ia
  • Mucolipidosis IV
  • Niemann-Pick disease, type A
  • Tay Sachs

Molecular Genetics (MGL5)

  • Cystic Fibrosis

Biochemical Genetics
(BGL and BGL1)

  • Acylcarnitines
  • Amino acids
    (qualitative and quantitative)
  • Educational specified metabolic disorders
  • Mucopolysaccharides
    (qualitative and quantitative)
  • Organic acids
    (qualitative and quantitative)
  • Carnitine, quantitative

Molecular Genetics Post Analytical DNA Sequencing (SEC)

  • DNA sequence interpretation

Molecular Genetics DNA Sequencing (SEC1)

  • Analytical/wet bench and DNA sequence interpretation

Maternal Screen

  • Alpha-fetoprotein (AFP), serum
  • Alpha-fetoprotein (AFP), amniotic fluid
  • Dimeric inhibin A (DIA)
  • Estriol, uncongugated (uE3)
  • Human chorionic gonadotropin (hCG), quantitative

Pharmacogenetics (PGx)

  • CYP2C9
  • CYP2C19
  • CYP2D6
  • UGT1A1
  • VKORC1

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Maternal Screening Maternal Screening