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
$900
Test Code: 1385
|
Deletion / Duplication
$900
Test Code: 1386
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1691
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Test Details
Technical Information
Genes:
EIF2AK3
Disease Groups:
Skeletal Dysplasias
Metabolic and Endocrine Disorders
MIM:
226980
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1385 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.