Ellis-van Creveld Syndrome via the EVC2 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
11307 EVC2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11307EVC281479 81479 $890 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.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing 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

Ellis-van Creveld syndrome (OMIM#225500) is a chondral and ectodermal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth (Ruiz-Perez et al. Nature Genet 24:283-286, 2000). Congenital heart defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals.

Genetics

EVC is inherited as an autosomal recessive trait with variable expression. The EVC and EVC2 genes, located in a head to head configuration on chromosome 4p16, are associated with this disorder. Heterozygous mutations in these two genes may be associated with autosomal dominant Weyers acrofacial dysostosis (OMIM#193530), which has overlapping skeletal features with EVC. EVC is a rare disorder, but with an increased frequency among the Amish population and some Arab populations. EVC shares a common promoter region with EVC2; the transcriptional start sites of the two genes are separated by only 2.6 kb. There is no significant sequence homology between EVC and EVC2 at either protein or nucleic levels. The gene products of EVC and EVC2 have been shown to play a role in hedgehog signaling pathway and to function in bone formation and skeletal development (Valencia et al. Hum Mutat 30:1667-1675, 2009). In both EVC and EVC2, the majority of reported mutations are nonsense, frameshift and splice site mutations.

Clinical Sensitivity - Sequencing with CNV PGxome

Combining EVC and EVC2, this test is predicted to detect disease mutations in at least two thirds of affected individuals with EVC (Tompson et al. Hum Genet 120:663-670, 2007; Valencia et al. Hum Mutat 30:1667-1675, 2009). In one study, EVC and EVC2 mutations were found in 74% (20/27) and 26% (7/27) of EVC patients, respectively (D'Asdia et al. Eur J Med Genet. 56(2):80-87, 2013).

Four gross deletions and three complex rearrangements have been reported to date in EVC (Human Gene Mutation Database). Five gross deletions have been reported in EVC2.

Testing Strategy

This test provides full coverage of all coding exons of the EVC2 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.

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 and radiographic features consistent with EVC, and family members of patients who have known EVC2 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EVC2.

Gene

Official Gene Symbol OMIM ID
EVC2 607261
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Ellis-van Creveld Syndrome AR 225500

Citations

  • D'Asdia et al. (2013). "Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis." Eur J Med Genet 56(2):80-87. PubMed ID: 23220543
  • Human Gene Mutation Database (Bio-base).
  • Ruiz-Perez, V. L., et.al. (2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis." Nat Genet 24(3): 283-6. PubMed ID: 10700184
  • Tompson, S. W., et.al. (2007). "Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients." Hum Genet 120(5): 663-70. PubMed ID: 17024374
  • Valencia, M., et.al. (2009). "Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling." Hum Mutat 30(12): 1667-75. PubMed ID: 19810119

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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