Number of Panel Genes: 
42

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

42 Panel Genes: ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62
Next Generation Sequencing
$1,400
Test Code: 5406
Deletion / Duplication
$990
Test Code: 5407
NGS/Del Dup Comprehensive
$1,600
Test Code: 5408

Test Details

Technical Information
Panel Genes: 
ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,400
CPT Codes: 
81404 x 1
81405 x 3
81406 x 4
81407 x 1
81408 x 1
81479 x 32
Ordering
SKU:
5406
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.

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