Gene testing is available for multiple rare disorders using multiple technologies including next generation sequencing panels and array CGH.   Additionally, the lab offers a clinical research exome (‘medical exome’) complimented by an exon-level exome microarray.

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Tests in Molecular Genetics
Showing Results 1 to 10 of 107.

3-methylcrotonyl-CoA Carboxylase Deficiency Panel

  • Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    3-MCC deficiency • MCCC1 • MCCC2
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Achromatopsia, CNGA3/CNGB3, Sequencing

  • Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Achromatopsia Sequencing • Autosomal Recessive Stargardt Disease Pingelapese Achromatopsia • Pingelapese Blindness; Rod Monochromatism 2
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Agenesis of the Corpus Callosum Panel

  • Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Andermann syndrome • L1CAM disorders
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Amyotrophic Lateral Sclerosis Panel

  • Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    ALS • ALS2 • ANG • ATXN2 • C9ORF72 • CHMP2B • DCTN1 • FIG4 • FUS • NEFH • OPTN • PFN1 • PRPH2 • SETX • SIGMAR1 • SOD1 • SPG20 • TARDBP • UBQLN2 • VAPB • VCP • VEGFA
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APOL1, Sequencing

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Arrhythmogenic Right Ventricular Cardiomyopathy

  • Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    ARVC • Ventricular Arrhythmia • DSC2 • DSG2 • DSP • JUP • LMNA • MYBPC3 • MYH7 • PKP2 • RYR2 • TGFB3 • TMEM43 • TTN
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Autosomal Dominant Osteogenesis Imperfecta Panel

  • Test Code:
    2264
  • Department:
    Molecular Genetics
  • Test Synonyms:
    COL1A1 • COL1A2 • IFITM5 • LRP5 • Brittle bone disease • Fragilitas ossium • OI • Vrolik disease
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Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45 Sequencing

  • Test Code:
    1080
  • Department:
    Molecular Genetics
  • Test Synonyms:
    WDR45 sequencing • BPAN sequencing • NBIA Sequencing
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Bone Marrow Failure Panel

  • Test Code:
    1085
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Aplastic anemia • Fanconi anemia • Diamond Blackfan anemia • Shwachman Diamond anemia • Dyskeratosis congentia • Myelodysplastic anemia • ABCB7 • ACD • ADA2 • AK2 • ALAS2 • ANKRD26 • ATM • ATR • BLM • BRCA1 • BRCA2 • BRIP1 • c6orf25 • CBL • CDAN1 • CECR1 • CLPB • CSF3R • CTC1 • CXCR4 • DDX41 • DKC1 • DNAJC21 • EFL1 • EFTUD1 • ELANE • EPO • ERCC4 • ERCC6L2 • ETV6 • FANCA • FANCB • FANCC • FANCD2 • FANCE • FANCF • FANCG • FANCI • FANCL • FANCM • G6PC3 • GATA1 • GATA2 • GFI1 • HAX1 • HOXA11 • ITK • JAGN1 • KLF1 • KRAS • LIG4 • LYST • MAD2L2 • MECOM • MPIG6B • MPL • MYSM1 • NBN • NHP2 • NOP10 • NRAS • PALB2 • PARN • PRF1 • PTPN11 • PUS1 • RAB27A • RAC2 • RAD51 • RAD51C • RBM8A • RFWD3 • RPL11 • RPL15 • RPL18 • RPL26 • RPL27 • RPL31 • RPL35 • RPL35A • RPL5 • RPL9 • RPS10 • RPS15 • RSP15A • RPS19 • RPS24 • RPS26 • RPS27 • RPS27A • RSP28 • RPS29 • RTEL1 • RUNX1 • SAMD9 • SAMD9L • RPS7 • SBDS • SLC37A4 • SLX4 • SMARCD2 • SRP54 • SRP72 • TBXAS1 • TCN2 • TERC • TERT • THPO • TINF2 • TP53 • TSR2 • UBE2T • USB1 • VPS45 • WAS • WDR1 • WIPF1 • WRAP53 • XRCC2 • ZCCHC8
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BRCA1 and BRCA2 Sequencing and Deletion/Duplication

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Innovations in Testing
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The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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