• Test Code:
    1895
  • Department:
  • Test Synonyms:
    MODYABCC8AKT2BLKCISD2CPEIF2AK3FOXP3GATA6GCKGLIS3HNF1AHNF1BHNF4A IER3IP1INSKCNJ11KLF11NEUROD1NEUROG3PAX4PDX1PTF1ARFX6SLC2A2WFS1
  • CPT Code(s):
    8140381404x281405x281406x28140781479x17
Background:

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that results from mutations of one of a group of genes which affect the insulin-producing ability of the pancreas.  This condition is characterized by childhood to early onset of diabetes.  This condition is inherited in an autosomal dominant manner. 

Reasons for Referral:

  • Molecular diagnosis for individuals with suspected forms of diabetes
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 25 Diabetes of Young-Maturity Onset-associated genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Diabetes of Young-Maturity Onset (25 genes): ABCC8, AKT2, BLK, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, INS, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided.
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

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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