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
$900
Test Code: 2150
|
Deletion / Duplication
$900
Test Code: 2151
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 2152
|
Test Details
Technical Information
Genes:
COL4A1
Disease Groups:
Neurological and Muscular Disorders
Eye Disorders
MIM:
607595
Billing
CPT Codes:
81408 x 1
Ordering
SKU:
2150 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.