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Test Code
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5408
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Test Name
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Lissencephaly And Related Disorders NGS Panel
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CPT Codes
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81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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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.
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Specimen and Container Info
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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. |
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Transport Instructions
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- 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.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- 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
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Description
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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 and related disorders NGS panel consists of forty-two 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 and WDR62. Gene | Disorder | MIM | Inheritance | ACTB | Baraitser-Winter syndrome 1 (BRWS1) | 243310 | AD | ACTG1 | Baraitser-Winter syndrome 2 (BRWS2) | 614583 | AD | ADGRG1 | Polymicrogyria, bilateral frontoparietal (BFPP) Polymicrogyria, bilateral perisylvian, autosomal recessive (BPPR) | 606854 615752 | AR AR | ARX | Lissencephaly, X-linked 2, (LISX2) | 300215 | XL | ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA (ARCL2A) | 219200 | AR | B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 (MDDGA11) | 615181 | AR | B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 (MDDGA13) | 615287 | AR | CDK5 | Lissencephaly 7 with cerebellar hypoplasia (LIS7) | 616342 | AR | DAG1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MDDGA9) | 616538 | AR | DCX | Lissencephaly, X-linked, 1 (LISX1) | 300067 | XL | DYNC1H1 | Mental retardation, autosomal dominant 13 (MRD13) | 614563 | AD | FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MDDGA5) Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 (MDDGB5) | 613153 606612 | AR AR | FKTN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4) | 253800 | AR | GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MDDGA14) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MDDGB14) | 615350 615351 | AR AR | ISPD | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 (MDDGA7) | 614643 | AR | KATNB1 | Lissencephaly 6 with microcephaly (LIS6) | 616212 | AR | KIF2A | Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) | 615411 | AD | KIF5C | Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) | 615282 | AD | LAMA2 | Muscular dystrophy, congenital merosin-deficient, 1A (MDC1A) | 607855 | AR | LAMB1 | Lissencephaly 5 (LIS5) | 615191 | AR | LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (MDDGA6) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MDDGB6) | 613154 608840 | AR AR | NDE1 | Lissencephaly 4 (LIS4) Microhydranencephaly (MHAC) | 614019 605013 | AR AR | PAFAH1B1 | Lissencephaly 1 (LIS1) | 607432 | AD | POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MDDGA3) | 253280 | AR | POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MDDGA2) | 613150 | AR | POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MDDGA12) | 615249 | AR | POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1) | 236670 | AR | POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MDDGA2) | 613150 | AR | RELN | Lissencephaly 2 (LIS2) | 257320 | AR | RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MDDGA10) | 615041 | AR | SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | AR | SRD5A3 | Congenital disorder of glycosylation, type Iq (CDG1Q) | 612379 | AR | TMTC3 | Lissencephaly 8 (LIS8) | 617255 | AR | TUBA1A | Lissencephaly 3 (LIS3) | 611603 | AD | TUBA8 | Cortical dysplasia, complex, with other brain malformations 8 (CDCBM8) | 613180 | AR | TUBB | Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) | 615771 | AD | TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) | 615763 | AD | TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) | 610031 | AD | TUBB3 | Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) | 614039 | AD | TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) | 615412 | AD | VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (CAMRQ1) | 224050 | AR | WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | 604317 | AR |
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Testing Schedule
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Monday-Friday
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Genes
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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
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Disease Group
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Neuromuscular
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