News & Updates
Thurs, 03/01/12 -- 12:00am
COMING SOON! Clinically licensed TCA (Citric Acid Cycle) Intermediates assay of mitochondrial dysfunction (currently available on a research basis only).
Mon, 08/08/11 -- 12:00am
All samples for DNA testing for peroxisomal disorders should be sent directly to the DNA Diagnostic Lab at Johns Hopkins. The full range of biochemical testing for peroxisomal disorders is still available.
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Online Mendelian Inheritance in Man (OMIM):
To access the OMIM web site, please visit: www.ncbi.nlm.nih.gov/omim.
Below is a list of the common diseases for which the Genetics Laboratories at Kennedy Krieger Institute tests. Please click on the accompanying links to visit the OMIM web site for more information.
- Cerebrotendinous Xanthomatosis (OMIM 213700)
- XALD (OMIM 300100)
- Smith-Lemli-Opitz Syndrome (OMIM 270400)
- Sitosterolemia (OMIM 210250)
- Phytosterolemia (OMIM 210250)
- Lathosterolosis (OMIM 607330)
- Desmosterolosis (OMIM 602398)
- X-Linked Creatine Transporter Deficiency (OMIM 300352)
- Arginine Glycine Amidinotransferase (AGAT) Deficiency (OMIM 612718)
- Guanidinoacetate Methyltransferase (GMAT) Deficiency (OMIM 612736)
- Zellweger Syndrome (OMIM 214100)
- NALD (OMIM 202370)
- Infantile Refsum Disease (OMIM 266510)
- Refsum Disease (OMIM 266500)
- Methylmalonic Acidemia (OMIM 251000, 277410, 277400, 251100, and 277380)
- Canavan Disease (OMIM 271900)
- Hyper IgD Syndrom (OMIM 260920)
- Mevalonic Aciduria (OMIM 610377)
- Methylglutaconic Acidurias
- Ornithine Transcarbamylase (OTC) Deficiency (OMIM 311250)
- Rhizomelic Chondrodysplasia Punctata (RCDP) (OMIM 215100)
- 22q11.2 Deletion or Duplication
- Sex Determining SRY (OMIM 480000)