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
9905 MID1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9905MID181479 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

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).

Genetics

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.

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

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

Gene

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

Disease

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

Citations

  • 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/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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