Disorders


 

Hartnup Disease


 

OMIM

GeneLocusProtein
SLC6A195p15Sodium-dependent neutral amino acid transporter B(0)

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Analyte
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Analyte
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA• Analyte

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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