Wolcott-Rallison syndrome (MIM 226980) is an autosomal recessive disorder characterized by insulin-dependent diabetes developing in the newborn or neonatal period and multiple epiphyseal dysplasia. Many patients have recurrent episodes of hepatitis or frank hepatic failure followed by developmental regression or retardation.read more

Tests Available

By gene: EIF2AK3
Next Generation Sequencing
Test Code: 1385
Deletion / Duplication
Test Code: 1386
NGS/Del Dup Comprehensive
Test Code: 1691

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Metabolic and Endocrine Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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