Biochemical Genetics Laboratory

Directors: Harding, Cary O., M.D.; Richards, Carolyn Sue, PhD

Summary:

The OHSU Biochemical Genetics Laboratory is dedicated to providing specialized laboratory testing and comprehensive diagnostic evaluation of rare and unusual inherited metabolic diseases. Our expertise includes interpretation of results which requires detailed knowledge of the field by individuals specializing in clinical biochemical genetics.

Affiliations:

• Department of Molecular & Medical Genetics, Oregon Health & Science University

People:

• Director: Harding, Cary O., M.D.
  
• Director: Richards, Carolyn Sue, PhD
  

Member: Wilcox, Kim
Role: Systems Admin, Laboratory Services

Resources:

Services

• Amino acid analyses ( Material analysis service )
  

  Amino acid analyses include
  --metabolic screen in urine,
  --single or total quantitative in CSF, plasma, urine

• Aspartylglucosamine analysis, urine ( Material analysis service )
  

• Carnitine analysis, plasma ( Material analysis service )
  

• Cystathionine analysis, urine ( Material analysis service )
  

• Hexosaminidase A & B analysis, serum ( Material analysis service )
  

• Homocystine analysis, urine ( Material analysis service )
  

• Ketolytic enzyme testing ( Material analysis service )
  

• Leukocyte preparation ( Material modification service )
  

  Separation and preservation of leukocytes from whole blood samples for subsequent analysis.

• Mucopolysaccharide analysis, urine ( Material analysis service )
  

  Identification and quantification of mucopolysaccharide in urine

• Organic acids analysis ( Material analysis service )
  

  Analysis by gas chromatography/mass spectrometry in urine (preferred) or plasma samples

• Phosphoethanoloamine analysis, urine ( Material analysis service )
  

• Phytanic acid analysis, plasma ( Material analysis service )
  

• Qualitative analysis of oligosaccharides, urine ( Material analysis service )
  

• Quantitative alanine analysis ( Material analysis service )
  

  Quantitative analysis of alanine in CSF, plasma, urine samples

• Quantitative analysis of phenylalanine, plasma ( Material analysis service )
  

• Quantitative glycine analysis ( Material analysis service )
  

  Quantitative glycine analysis in CSF, plasma, urine samples

• Quantitiative cystine analysis, urine ( Material analysis service )
  

• Succinylacetone with organic acids analysis, urine ( Material analysis service )
  

• Tay-Sachs carrier screening, serum ( Material analysis service )
  

  can also be performed stat.

• Very long chain fatty acid analysis, plasma ( Material analysis service )
  

Web Links:

• http://www.ohsu.edu/xd/health/services/cancer/getting-treatment/services/
  knight-diagnostic-laboratories/genetic-disorders/biochemical-genetics.cfm