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Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR 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
11105 BCOR 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11105BCOR81479 81479(x2) $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.

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).

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 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

  • Anthony Krentz, PhD

Clinical Features and Genetics

Clinical Features

Oculofaciocardiodental syndrome or OFCD is a multisystemic disorder. Females affected with OFCD commonly have congenital cataracts and microphthalmia, long narrow face with a short pointed nose, broad nasal tip, long philtrum and palatal abnormalities. Dental abnormalities include persistent primary teeth, oligodontia, and canine radiculomegaly. Skeletal abnormalities include syndactyly and hammer toes. Congenital cardiac defects, most commonly atrial and ventricular septal defects, are also associated with OFCD (Gorlin et al. Am J Med Genet 63:290-292, 1996; Hilton et al. Eur J Hum Genet 17:1325-1335, 2009). Male patients with X-linked Lenz microphthalmia syndrome present with unilateral or bilateral microphthamia, anophthalmia, simple ears, hearing defects, atrial septal defects and mild to severe mental retardation. Digital defects including duplicated thumbs, syndactyly, clinodactyly, and camptodactyly are also common features of Lenz microphthamia syndrome (Ng, D. GeneReviews).

Genetics

OFCD and Lenz microphthalmia syndrome are allelic disorders caused by mutations in the BCOR gene (BCL6-corepressor). BCOR is a transcriptional repressor that physically interacts with a polycomb group complex, which has H2A monoubiquitination activity, and a SCF box, which has H3K36 demethylase activity to repress transcription of BCL6 target genes (Gearhart et al. Mol Cell Biol 26:6680-6689, 2006). OFCD is inherited in an X-linked dominant manner with presumed male lethality caused by loss of function mutations in BCOR. All documented causative mutations in female patients with OFCD are chain terminating mutations in BCOR (nonsense, splicing, frameshifts and large deletions) located throughout the coding region. The clinical phenotype of females with OFCD may be variable due to X-inactivation and somatic mocaicism (Hilton et al. Eur J Hum Genet 17:1325-1335, 2009). Missense mutation (c.254 C>T, p.Pro85Leu) in BCOR has been found in two unrelated males with X-linked recessive Lenz microphthalmia syndrome (Ng et al. Nat Genet 36:411–416, 2004; Hilton et al. Eur J Hum Genet 17:1325-1335, 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

The great majority of patients (61/64) diagnosed with OFCD have been found to have truncating mutations in BCOR (Ng et al. Nat Genet 36:411–416, 2004; Horn et al. Eur J Hum Genet 13:563–569, 2005; Hilton et al. Eur J Hum Genet 17:1325-1335, 2009). The clinical sensitivity for Lenz microphthamia syndrome is presumed to be low; one study found causative mutations in BCOR in one out of 21 patients (Hilton et al. Eur J Hum Genet 17:1325-1335, 2009).

Testing Strategy

This test provides full coverage of all coding exons of the BCOR 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 females with symptoms consistent with OFCD, males with symptoms consistent with X-linked recessive Lenz microphthalmia syndrome and family members of patients with known BCOR mutations.

Gene

Official Gene Symbol OMIM ID
BCOR 300485
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Oculofaciocardiodental Syndrome XL 300166

Citations

  • Gearhart et al. (2006) "Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets." Mol Cell Biol. 26:6880-6889. PubMed ID: 16943429
  • Gorlin et al. (1996) "Oculo-facio-cardio-dental (OFCD) syndrome" Am J Med Genet 63:290-292 PubMed ID: 8723122
  • Hilton E. et al. 2009. European Journal of Human Genetics : Ejhg. 17: 1325-35. PubMed ID: 19367324
  • Horn et al. (2005) "Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome." Eur J Hum Genet 13:563–569. PubMed ID: 15770227
  • NG D. 2014. Lenz Microphthalmia Syndrome. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle. PubMed ID: 20301694
  • Ng D. et al. 2004. Nature Genetics. 36: 411-6. PubMed ID: 15004558

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

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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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