DNA icon

Meier-Gorlin Syndrome via the CDC6 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11163 CDC6 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11163CDC681479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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

  • Juan Dong, PhD, FACMG

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). Testing for all five genes is available. 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). CDC6 encodes cell division cycle 6 that has a critical regulatory role in the initiation of DNA replication (Yan et al. Proc Nat Acad Sci 95:3603-3608, 1998). A homozygous missense variant in CDC6 was found in a patient with MGS (Bicknell et al. Nat Genet 43:356-359, 2011; Guernsey et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

MGS is a rare condition. Series of MGS patients screened for CDC6 variants have not been described in the literature. This test has been designed to detect >99% of point variants published to date.

Testing Strategy

This test provides full coverage of all coding exons of the CDC6 gene 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 full 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

Candidates for this test are patients with clinical features consistent with Meier-Gorlin syndrome but who tested negative for other MGS genes (ORC1, ORC4, ORC6, and CDT1) as well as family members of patients who have known CDC6 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CDC6.

Gene

Official Gene Symbol OMIM ID
CDC6 602627
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Meier-Gorlin Syndrome 5 AR 613805

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
  • Bicknell et al. Nat Genet 43:356-359, 2011
  • 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
  • Yan et al. Proc Nat Acad Sci 95:3603-3608, 1998 PubMed ID: 9520412

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

ORDER OPTIONS

An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)


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: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
×
Copy Text to Clipboard
×