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.

Showing Results 1 to 10 of 116.

3-methylcrotonyl-CoA Carboxylase Deficiency Panel

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

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

  • Test Code:
  • Department:
  • 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:
  • 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:
  • 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:
  • Test Synonyms:
    WDR45 full gene sequencing BPAN sequencing NBIA Sequencing
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Bone Marrow Failure Panel

  • Test Code:
    1085
  • Department:
  • 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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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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