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Lissencephaly 2 via the RELN Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
5073 RELN 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5073RELN81479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Lissencephalies and subcortical band heterotopia (SBH) are a group of cerebral malformations involving arrest of neuronal migration during embryogenesis. Lissencephaly is characterized by simplification or absence of the brain convolutions, resulting in a smooth appearance. SBH, also known as double cortex, is characterized by abnormal bands of neurons beneath a normal cortex. Lissencephalies and SBH are characterized by intellectual disability and seizures. Additional features include microcephaly, subtle dysmorphic features, failure to thrive, difficulty feeding and swallowing, malformations of the digits, muscle spasms, myoclonic jerks, cognitive impairment, and poor social interactions (Leventer et al. 2001. PubMed ID: 11502906; Wallerstein et al. 2008. PubMed ID: 18462864; Dobyns. 2010. PubMed ID: 20331703; Di Donato et al. 2017. PubMed ID: 28440899). The incidence of lissencephalies is ~1:100,000 live births (https://www.orpha.net).

Lissencephalies are clinically and genetically heterogeneous. Several forms are recognized. They are distinguished on the basis of the clinical features and the causative genes.

Lissencephaly 2 can be distinguished by MRI findings consistent with severe abnormalities of the cerebellum, hippocampus and brainstem. Additional findings include severe microcephaly, hypotonia, hyperreflexia, growth failure, and craniofacial features in the form of prominent occiput, low sloping forehead, prominent nasal bridge and ocular hypertelorism (Norman et al. 1976. PubMed ID: 175907; Dobyns et al. 1984. PubMed ID: 6476009; Iannetti et al. 1993. PubMed ID: 8368261).

Genetics

Lissencephaly 2 is inherited in an autosomal recessive manner. It is caused by homozygous or compound heterozygous pathogenic variants in the RELN gene. To date, five truncating pathogenic variants have been reported. They include 2 splicing variants, one small frameshift deletion, one gross deletion and one complex rearrangement (Hong et al. 2000. PubMed ID: 10973257; Alfares. 2017. PubMed ID: 28454995; Zaki et al. 2007. PubMed ID: 17431900; Human Gene Mutation Database).

The RELN gene encodes reelin, a glycoprotein involved in several cellular processes including the proper positioning of neurons during brain development (Quattrocchi et al. 2002. PubMed ID: 11689558).

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in the RELN gene have been detected in about 1% of patients from a large cohort of children with lissencephaly (Di Donato et al. 2018. PubMed ID: 29671837).

Testing Strategy

This test provides full coverage of all coding exons of the RELN gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with lissencephaly with or without cerebellar hypoplasia. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RELN.

Gene

Official Gene Symbol OMIM ID
RELN 600514
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Epilepsy, Familial Temporal Lobe, 7 AD 616436
Lissencephaly 2 AR 257320

Citations

  • Alfares. 2017. PubMed ID: 28454995
  • Di Donato et al. 2017. PubMed ID: 28440899
  • Di Donato et al. 2018. PubMed ID: 29671837
  • Dobyns et al. 1984. PubMed ID: 6476009
  • Dobyns. 2010. PubMed ID: 20331703
  • Hong et al. 2000. PubMed ID: 10973257
  • Human Gene Mutation Database (Bio-base).
  • Iannetti et al. 1993. PubMed ID: 8368261
  • Leventer et al. 2001. PubMed ID: 11502906
  • Norman et al. 1976. PubMed ID: 175907
  • Quattrocchi et al. 2002. PubMed ID: 11689558
  • Wallerstein et al. 2008. PubMed ID: 18462864
  • Zaki et al. 2007. PubMed ID: 17431900

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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