Number of Panel Genes: 
2

Porencephaly (POREN) is an autosomal dominant disorder characterized by fluid-filled cysts and cavities in the brain. Clinical finding include hemiplegia, tetraparesis, limb dystonia, seizures, developmental delay, exotropia and visual field defects. Neuroimaging findings include diffuse leukoencephalopathy, microbleeds, and deep white matter hyperintensities.read more

Tests Available

2 Panel Genes: COL4A1, COL4A2
Next Generation Sequencing
$1,200
Test Code: 2189
Deletion / Duplication
$990
Test Code: 2190
NGS/Del Dup Comprehensive
$1,850
Test Code: 2191

Test Details

Technical Information
Panel Genes: 
COL4A1, COL4A2
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
175780
614483
Billing
Price: 
$1,200
CPT Codes: 
81408 x 1
81479 x 1
Ordering
SKU:
2189
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search