Meier-Gorlin Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10207 CDC6 81479,81479 Order Options and Pricing
CDT1 81479,81479
ORC1 81479,81479
ORC4 81479,81479
ORC6 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10207Genes x (5)81479 81479 $890 Order Options and Pricing

Pricing Comments

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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Meier-Gorlin syndrome (MGS) is a form of primordial dwarfism, characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (Bongers et al. Am J Med Genet 102:115-124, 2001). Pulmonary emphysema, feeding problems, various skeletal abnormalities, genitourinary anomalies, and mammary hypoplasia frequently accompany this disorder. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable (Munnik et al. Eur J Hum Genet 20: 598-606, 2012). The characteristic facial features may gradually change with age.

Genetics

MGS is a rare autosomal recessive disorder. Recently, variants in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6) were identified in individuals with MGS (Bicknell et al. Nat Genet 43:350-355, 2011; Bicknell et al. Nat Genet 43:356-359, 2011; Guernsey et al. Nat Genet 43:360-364, 2011). The pre-replication complex forms at origins of DNA replication and is essential to initiate genome replication (Nishitani et al. Nature 404:625-628, 2000; Bell et al. Nature 357:128-134, 1992). This complex consists of the origin recognition complex (subunits 1-6), two regulatory proteins (CDC6 and CDT1), and a putative helicase complex (Munnik et al. 2012).

Individuals with ORC1 variants had significantly shorter stature and smaller head circumferences than individuals from other gene categories (Munnik et al. 2012). The majority of MGS variants are missense and splicing variants. Truncating variants are usually associated with a more severe phenotype (Bicknell et al. Nat Genet 43:356-359, 2011). A gross deletion has been reported in the ORC4 gene (Guernsey et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Large series of MGS patients screened for variants in all five MGS genes have not been described in the literature. Bicknell studied 33 individuals with MGS and found ORC1 variants in four of them from three families (Bicknell et al. Nat Genet 43:356-359, 2011). They also found variants in the remaining four genes (ORC4, ORC6, CDT1, and CDC6) in 14 individuals with MGS from nine families.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with clinical features consistent with Meier-Gorlin syndrome.

Genes

Official Gene Symbol OMIM ID
CDC6 602627
CDT1 605525
ORC1 601902
ORC4 603056
ORC6 607213
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Bell et al. Nature 357:128-134, 1992 PubMed ID: 1579162
  • Bicknell et al. (2011). Nat Genet 43:356-359. PubMed ID: 21358632
  • Bicknell et al. Nat Genet 43:350-355, 2011 PubMed ID: 21358633
  • Bongers et al. Am J Med Genet 102:115-124, 2001 PubMed ID: 11477602
  • Guernsey et al. Nat Genet 43:360-364, 2011 PubMed ID: 21358631
  • Munnik et al. Eur J Hum Genet 20: 598-606, 2012. PubMed ID: 22333897
  • Nishitani et al. Nature 404:625-628, 2000 PubMed ID: 10766248

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.

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 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.

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