Number of Panel Genes:
10
Lissencephaly is a rare, genetically heterogeneous brain malformation caused by impaired neuronal migration during embryogenesis. The condition is characterized by absence or incomplete development of the gyri of the brain cortex, causing a smooth brain surface. Other typical findings include an abnormally thick, poorly organized cortex, postnatal microcephaly, profound mental retardation, severe developmental delay, and seizures.read more
Tests Available
10 Panel Genes: ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Next Generation Sequencing
$1,100
Test Code: 5403
|
Deletion / Duplication
$990
Test Code: 5404
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NGS/Del Dup Comprehensive
$1,300
Test Code: 5405
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Test Details
Technical Information
Panel Genes:
ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Disease Groups:
Neurological and Muscular Disorders
Billing
CPT Codes:
81404 x 1
81405 x 1
81406 x 1
81479 x 1
Ordering
SKU:
5403 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.