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Opitz G/BBB Syndrome Type 1 via the MID1 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
MID1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9905MID181479 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.


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Opitz G/BBB syndrome type 1, X-linked, is a congenital disorder characterized by multiple midline structure malformation (Cox et al 2000). The manifestations include facial anomalies (hypertelorism, frontal bossing, broad nasal bridge, cleft lip and/or palate), laryngo-tracheo-esophageal abnormalities, genitourinary abnormalities (imperforate anus, hypospadias) and cardiac defects. Developmental delay and intellectual disability are common and present in half of affected males. The expressivity of Opitz G/BBB syndrome is highly variable. Almost all patients who harbor pathogenic variants in MID1 have hypertelorism, laryngo-tracheo-esophageal defects and hypospadias, while other less frequent signs are cleft lip and/or palate, cardiac and anal defects (Cox et al 2000; Ferrentino et al. 2007).

The clinical phenotype of Opitz G/BBB syndrome type , X-linked, is presented in male patients, while female carriers usually present with only hypertelorism and occasionally other minor signs (Ferrentino et al. 2007).


Opitz G/BBB syndrome is inherited in X-linked recessive manner and is caused by pathogenic variants in the MID1 gene encoding protein midline 1. Pathogenic variants reported in the MID1 gene include missense, nonsense, splicing, small deletions and small duplications (Ferrentino et al. 2007; Fontanella et al. 2008). Large deletions and duplication are also relatively common (Cox et al 2000; Ferrentino et al. 2007). 

Protein midline 1 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). 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 (Short et al. 2002; Du et al. 2014; Wright et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

MID1 is the only gene responsible for X-linked Opitz G/BBB syndrome. Sequence analysis detects pathogenic variants in 15 - 45% of males with clinically diagnosed Opitz G/BBB syndrome (Cox et al. 2000; Ferrentino et al. 2007; Fontanella et al. 2008). The sensitivity of this test is >50% in patients of Opitz G/BBB syndrome with X-linked inheritance (Meroni et al 2011).

Large deletions and duplications are not rare in the patients with X-linked Opitz G/BBB syndrome and have been reported in many cases (Ferrentino et al 2007).

Testing Strategy

This test provides full coverage of all coding exons of the MID1 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

MID1 sequencing is recommended for patients who are suspected to have Opitz G/BBB syndrome type 1.


Official Gene Symbol OMIM ID
MID1 300552
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Opitz G/BBB Syndrome, Type I XL 300000


  • Cox T.C. et al. 2000. Human Molecular Genetics. 9: 2553-62. PubMed ID: 11030761
  • Du H. et al. 2014. Plos One. 9: e107428. PubMed ID: 25207814
  • Ferrentino R. et al. 2007. Human Mutation. 28: 206-7. PubMed ID: 17221865
  • Fontanella B. et al. 2008. Human Mutation. 29: 584-94. PubMed ID: 18360914
  • Short K.M. et al. 2002. Bmc Cell Biology. 3: 1. PubMed ID: 11806752
  • Wright K.M. et al. 2014. Plos One. 9: e107537. PubMed ID: 25216264


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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