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 160.

3-methylcrotonyl-CoA Carboxylase Deficiency Panel

  • Test Code:
    1000
  • Department:
  • Test Synonyms:
    3-MCC deficiency MCCC1 MCCC2
View Test

Achromatopsia, CNGA3/CNGB3, Sequencing

  • Test Code:
    1001
  • Department:
  • Test Synonyms:
    Achromatopsia Sequencing Autosomal Recessive Stargardt Disease Pingelapese Achromatopsia Pingelapese Blindness; Rod Monochromatism 2
View Test

Agenesis of the Corpus Callosum Panel

  • Test Code:
    1004
  • Department:
  • Test Synonyms:
    Andermann syndrome L1CAM disorders ARX L1CAM MRPS16 SLC12A6
View Test

Amyotrophic Lateral Sclerosis Panel

  • Test Code:
    1010
  • 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
View Test

Angelman Syndrome Methylation and Deletion/Duplication

  • Test Code:
    1020
  • Department:
  • Test Synonyms:
    Angelman Syndrome SNRPN
View Test

Angelman Syndrome, UBE3A Sequencing

  • Test Code:
    1030
  • Department:
  • Test Synonyms:
    UBE3A full gene sequencing Angelman syndrome sequencing
View Test

APOL1, Sequencing

View Test

Arrhythmogenic Right Ventricular Cardiomyopathy

  • Test Code:
    1158
  • Department:
  • Test Synonyms:
    ARVC Ventricular Arrhythmia DSC2 DSG2 DSP JUP LMNA MYBPC3 MYH7 PKP2 RYR2 TGFB3 TMEM43 TTN
View Test

Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45 Sequencing

  • Test Code:
    1080
  • Department:
  • Test Synonyms:
    WDR45 full gene sequencing BPAN sequencing NBIA Sequencing
View Test

Bone Marrow Failure Panel

  • Test Code:
    1085
  • Department:
  • Test Synonyms:
    Aplastic anemia Fanconi anemia Diamond Blackfan anemia Shwachman Diamond anemia Dyskeratosis congentia Myelodysplastic anemia BRCA2 BRIP1 CTC1 DKC1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GATA1 MPL NBN NHP2 NOP10 PALB2 PRF1 RAD51C RPL11 RPL35A RPL36 RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7 SBDS SLX4 SRP72 TERT THPO TINF2 USB1 WRAP53 XRCC2
View Test

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.

Learn More