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: 2144
Deletion / Duplication
$680
Test Code: 2145
NGS/Del Dup Comprehensive
$1,570
Test Code: 2146

Test Details

Technical Information
Genes: 
COL4A1
Disease Groups: 
Eye Disorders
Neurological and Muscular Disorders
Kidney Disorders
MIM: 
611773
Billing
Price: 
$990
CPT Codes: 
81408 x 1
Ordering
SKU:
2144
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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