• Test Code:
    1610
  • Department:
  • Test Synonyms:
    Heterotaxy SyndromeACVR2BCITED2CRELD1DNAH11DNAH5DNAI1FOXH1GATA4GDF1LEFTY2NKX2-5NODALSHROOM3SMAD2ZIC3
  • CPT Code(s):
    81479x15
Background:

Heterotaxy is a congenital condition diagnosed by abnormal arrangement of organs in the chest and abdomen. The arrangements of the organs are flipped where they are typically seen, a condition called situs inversus or situs amiguus. This mis-orientation may cause structural abnormalities of the organs.  The prevalence of these conditions is about 1:10,000 worldwide. These conditions may be sporadic or follow an autosomal dominant, recessive or X-linked pattern. This next-generation sequencing test assesses the coding regions of 15 genes associated with heterotaxy syndrome.

Reasons for Referral:

  • Confirm a clinical diagnosis for a genetic etiology for heterotaxia
  • Carrier testing
  • Positive family history

Methodology:

Next generation sequencing will analyze the exons or coding regions of 15 Heterotaxia-associated genes using Illumina NextSeq 500 technology.  Samples are prepared 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.

The 15 Heterotaxia-associated genes are listed below:
ACVR2B, CITED2, CRELD1, DNAH11, DNAH5, DNAI1, FOXH1, GATA4, GDF1, LEFTY2, NKX2-5, NODAL, SHROOM3, SMAD2, ZIC3

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:

  1. Genetics Home Reference: Heterotaxy Syndrome https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome#

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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