Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|5047||ACTB||81479,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|5047||Genes x (28)||81479||81403(x1), 81404(x1), 81405(x2), 81406(x1), 81479(x51)||$1070||Order Options and Pricing|
We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).
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.
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Lissencephaly comprises a group of cerebral malformations due to a defect of neuronal migration. Lissencephaly is characterized by absent (agyria) or decreased (pachygyria) convolutions, cortical thickening, and a smooth cerebral surface. The symptoms of lissencephaly vary with different causes. The major features of lissencephaly include early developmental delay, early diffuse hypotonia, spastic quadriplegia, intellectual disability, infantile spasms and seizures. Additional features include microcephaly, subtle dysmorphic features, failure to thrive, difficult feeding and swallowing, muscle spasms, myoclonic jerks, and poor social interactions (Leventer et al. 2001. PubMed ID: 11502906; Wallerstein et al. 2008. PubMed ID: 18462864; Di Donato et al. 2017. PubMed ID: 28440899; Barkovich et al. 2012. PubMed ID: 22427329; Dobyns. 2010. PubMed ID: 20331703). The prevalence of classical lissencephaly is estimated around 12 per million births (Parrini et al. 2016. PubMed ID: 27781032).
Outside of DNA testing, brain imaging techniques such as CT and MRI are the most powerful tools for diagnosis of lissencephaly. For example, in the cases of tubulinopathies, MRI shows pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles, and variable degrees of reduced white matter volume (Brock et al. 2018. PubMed ID: 29706637; Poirier et al. 2013. PubMed ID: 23603762; Romaniello et al. 2017. PubMed ID: 28677066).
As lissencephaly can be caused by defects in many genes with variable and overlapping presentations, they can be difficult to diagnose by clinical manifestation and image studies only. Therefore, an accurate molecular diagnosis is critical for treatment, prognosis, and reproductive planning.
The genetic etiology of the lissencephaly is heterogeneous. Lissencelphay can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. This panel covers many well documented genes, as well as newly-discovered genes. Genes within the panel include ARX (Aristaless-related homeobox protein), DCX (doublecortin), RELN (reelin signaling), TUBA1A, TUBB2B, TUBB3, TUBB, TUBG1, TUBA8 (tubulins), KATNB1 (Katanin), MACF1 (microtubule-actin cross-linking factor), LAMB1 (extracellular matrix laminin), PAFAH1B1 (platelet-activating factor acetylhydrolase), NDE1 (mitosis-related protein), and a number of others (Di Donato et al. 2018. PubMed ID: 29671837; Parrini et al. 2016. PubMed ID: 27781032).
The type of pathogenic variant varies with different genes. The vast majority of pathogenic variants in genes involving tubulinopathies occur de novo (Bahi-Buisson and Cavallin et al. 2016. PubMed ID: 27010057; Rodan et al. 2017. PubMed ID: 27770045). Germline mosaicism has been reported in a patient with tubulinopathy (Brock et al. 2018. PubMed ID: 29706637).
See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.
Clinical Sensitivity - Sequencing with CNV PGxome
Lissencephaly is clinically and genetically heterogeneous. The sensitivity is variable depending on different disorders. In one study with analysis of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) a detection rate of 81% was achieved (Di Donato et al. 2018. PubMed ID: 29671837).
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 98.4% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
This panel is recommended for patients suspected to have lissencephaly.
This panel is recommended for patients suspected to have lissencephaly.
|Official Gene Symbol||OMIM ID|
- Bahi-Buisson and Cavallin et al. 2016. PubMed ID: 27010057
- Barkovich et al. 2012. PubMed ID: 22427329
- Brock et al. 2018. PubMed ID: 29706637
- Di Donato et al. 2017. PubMed ID: 28440899
- Di Donato et al. 2018. PubMed ID: 29671837
- Dobyns. 2010. PubMed ID: 20331703
- Leventer et al. 2001. PubMed ID: 11502906
- Parrini et al. 2016. PubMed ID: 27781032
- Poirier et al. 2013. PubMed ID: 23603762
- Rodan et al. 2017. PubMed ID: 27770045
- Romaniello et al. 2017. PubMed ID: 28677066
- Wallerstein et al. 2008. PubMed ID: 18462864
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.
- 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.
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
ORDER OPTIONSView 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.