Opitz G/BBB Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesGene CPT Codes Copy CPT Codes
5499 CASK81479,81479 Add to Order
EFNB181479,81479
FLNA81479,81479
MED1281479,81479
MID181479,81479
SPECC1L81479,81479
ZEB281405,81404
Test Code Test Copy Genes Total Price Panel CPT Code Gene CPT Codes Copy CPT Code STATPrenatal
5499 Genes x (7) $1100 81479 81404, 81405, 81479 Add to Order

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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Opitz G/BBB syndrome is a congenital condition characterized by multiple midline structure malformation of the body. There are two types of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome (type 1) and autosomal dominant Opitz G/BBB syndrome (type 2). The main features include facial anomalies (hypertelorism, frontal bossing, broad nasal bridge, cleft lip and/or palate), laryngo-tracheo-esophageal abnormalities, cardiac defects and genitourinary abnormalities (imperforate anus, hypospadias). Developmental delay and intellectual disability is common. The expressivity of Opitz G/BBB syndrome is highly variable (Cox et al. 2000. PubMed ID: 11030761; Ferrentino et al. 2007. PubMed ID: 17221865; Kruszka et al. 2015. PubMed ID: 25412741).

Genetics

In this panel, we sequence two Opitz G/BBB syndrome related genes (MID1, SPECC1L) and several other genes which present with overlapping clinical features. Opitz G/BBB syndrome is inherited via pathogenic variants either in an X-linked recessive manner (MID1 gene) or an autosomal dominant manner (SPECC1L gene). Frequently, Opitz syndrome is misdiagnosed in patients with FG syndromes, Mowat-Wilson syndrome and craniofrontonasal dysplasia which are caused by pathogenic variants in other genes.

MID1 encodes protein midline 1 which is a microtubule-associated protein that belongs to the tripartite motif family. Protein midline 1 contains an RBCC (RING finger motif, two B-box zinc finger motifs and a Coiled-Coil region) domain and a C terminal domain of unknown function (Cox et al. 2000. PubMed ID: 11030761). Midline 1 catalyzes the polyubiquitination of the catalytic subunit of protein phosphatase 2A (PP2Ac) which is a major serine/threonine phosphatase that regulates cellular processes associated with metabolism, cell-cycle progression, and apoptosis (Du et al. 2014. PubMed ID: 25207814; Wright et al. 2014. PubMed ID: 25216264).

SPECC1L encodes sperm antigen with calponin homology and coiled-coil domains 1-like protein which interacts with both microtubules and the actin cytoskeleton and is necessary for cell adhesion and migration (Kruszka et al. 2015. PubMed ID: 25412741).

Large deletions and duplications are relatively common in MID1, CASK , FLNA, ZEB2 and EFNB1 (Cox et al. 2000. PubMed ID: 11030761; Ferrentino et al. 2007. PubMed ID: 17221865; Human Gene Mutation Database).

See individual gene test descriptions for additional information on molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

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).

Clinical Sensitivity - Sequencing with CNV

MID1 is the only gene responsible for X-linked Opitz G/BBB syndrome. Sequence analysis detects pathogenic variants in 24-45% of males with clinically diagnosed Opitz G/BBB syndrome (Cox et al. 2000. PubMed ID: 11030761; Ferrentino et al. 2007. PubMed ID: 17221865; Fontanella et al. 2008. PubMed ID: 18360914; Kruszka et al. 2015. PubMed ID: 25412741). The sensitivity of this test is >50% in patients with Opitz G/BBB syndrome with X-linked inheritance (Meroni. 2018. PubMed ID: 20301502). Large deletions and duplications are relatively common in MID1, CASK, FLNA, ZEB2 and EFNB1 (Cox et al. 2000. PubMed ID: 11030761; Ferrentino et al. 2007. PubMed ID: 17221865; Human Gene Mutation Database).

Indications for Test

This panel is recommended for patients who are suspected to have Opitz G/BBB syndrome types 1 and 2.

Genes

Official Gene Symbol OMIM ID
CASK 300172
EFNB1 300035
FLNA 300017
MED12 300188
MID1 300552
SPECC1L 614140
ZEB2 605802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Cox et al. 2000. PubMed ID: 11030761
  • Du et al. 2014. PubMed ID: 25207814
  • Ferrentino et al. 2007 PubMed ID: 17221865
  • Fontanella et al. 2008. PubMed ID: 18360914
  • Human Gene Mutation Database (Bio-base).
  • Kruszka et al. 2015. PubMed ID: 25412741
  • Meroni. 2018. PubMed ID: 20301502
  • Wright et al. 2014. PubMed ID: 25216264

Ordering/Specimens

Ordering Options

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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