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

By gene: COL4A1
Next Generation Sequencing
$990
Test Code: 2183
Deletion / Duplication
$680
Test Code: 2184
NGS/Del Dup Comprehensive
$1,570
Test Code: 2185

Related Panels
Porencephaly NGS panel (2 genes)
NGS $1,200
Del Dup $750
Comp $1,850

Test Details

Technical Information
Genes: 
COL4A1
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
175780
Billing
Price: 
$990
CPT Codes: 
81408 x 1
Ordering
SKU:
2183
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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