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Test Code
5405
Test Name
Lissencephaly Core NGS Panel
CPT Codes
81403, 81404, 81405, 81406, 81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

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. Milder forms are associated with infrequent seizures and intellectual disability.

The lissencephaly core NGS panel consists of ten genes: ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3 and TUBA1A.

Gene

Disorder

MIM

Inheritance

ARX

Lissencephaly, X-linked 2, (LISX2)

300215

XL

CDK5

Lissencephaly 7 with cerebellar hypoplasia (LIS7)

616342

AR

DCX

Lissencephaly, X-linked, 1 (LISX1)

300067

XL

KATNB1

Lissencephaly 6 with microcephaly (LIS6)

616212

AR

LAMB1

Lissencephaly 5 (LIS5)

615191

AR

NDE1

Lissencephaly 4 (LIS4)

Microhydranencephaly (MHAC)

614019

605013

AR

AR

PAFAH1B1

Lissencephaly 1 (LIS1)

607432

AD

RELN

Lissencephaly 2 (LIS2)

257320

AR

TMTC3

Lissencephaly 8 (LIS8)

617255

AR

TUBA1A

Lissencephaly 3 (LIS3)

611603

AD
Testing Schedule
Monday-Friday
Genes
ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Disease Group
Neuromuscular
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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