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Agnathia-Otocephaly Complex Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
OTX2 81479,81479
PRRX1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7955Genes x (2)81479 81479(x4) $990 Order Options and Pricing

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 Custom Panel tool.

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).

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

Agnathia-otocephaly complex is a lethal malformation disorder that probably occurs early in embryogenesis (Schiffer et al. 2002). Mandibular hypoplasia or agnathia and abnormal ear position or ear fusion are the hallmark findings. Other findings include cleft palate, hypotelorism, microstomia, and the tongue can be small or absent. Variable findings include pulmonary hypoplasia and genitourinary and cardiovascular anomalies. Holoprosencephaly and situs inversus are commonly found in affected infants. Prenatal ultrasound has detected an affected fetus with polyhydramnios, micrognathia, low-set ears, and malformed feet (Akiyama et al. 2013). Affected babies have been reported to die in utero or shortly after birth.


Agnathia-otocephaly complex is inherited in an autosomal dominant manner and is caused by pathogenic variants in the PRRX1 or OTX2 genes. However, the PRRX1 gene also has been reported to be responsible for an autosomal recessive form of otocephaly (Çelik et al. 2011).

This Agnathia-otocephaly complex panel includes the PRRX1 and OTX2 genes.

PRRX1: encodes the paired-related homeobox 1 protein. It is expressed in specific temporal and spatial patterns and functions as a transcriptional regulator of developmental processes. One case of familial recurrence due to paternal gonadal mosaicism has been reported (Dasouki et al. 2013). A de novo pathogenic variant in PRRX1 has also been reported in an infant with Agnathia-otocephaly (Donnelly et al. 2012).

OTX2 (Orthodenticle homeobox 2): encodes a bicoid class homeobox family transcription factor that is required for normal development of the forebrain, eye, and pituitary gland. The reported pathogenic variants in OTX2 in Agnathia-otocephaly are variants with complete loss of function of the protein, such as nonsense, frame-shift mutation, as well as large deletions (Sergouniotis et al. 2015). De novo pathogenic variants are common in Agnathia-otocephaly complex patients. Extreme variable expression has been seen (Patat et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Less than 15% of otocephalic infants tested were found to have pathogenic variants in the PRRX1 gene (Donnelly et al. 2012). The clinical and analytical sensitivity are unknown for the OTX2 gene due to the rarity of this disorder.

Testing Strategy

This panel provides full coverage of 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. 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

Individuals with features of agnathia-otocephaly complex.


Official Gene Symbol OMIM ID
OTX2 600037
PRRX1 167420
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Agnathia-Otocephaly Complex AR, AD 202650

Related Test



  • Akiyama M. et al. 2013. Journal of Ultrasound in Medicine. 32: 1522-4. PubMed ID: 23887968
  • Çelik T. et al. 2012. Clinical Genetics. 81: 294-7. PubMed ID: 22211708
  • Dasouki M. et al. 2013. American Journal of Medical Genetics. Part A. 161A: 803-8. PubMed ID: 23444262
  • Donnelly M. et al. 2012. Prenatal Diagnosis. 32: 903-5. PubMed ID: 22674740
  • Patat O. et al. 2013. Molecular Syndromology. 4: 302-5. PubMed ID: 24167467
  • Schiffer C. et al. 2002. American Journal of Medical Genetics. 112: 203-8. PubMed ID: 12244557
  • Sergouniotis PI. et al. 2015. Journal of Human Genetics. 60: 199-202. PubMed ID: 25589041


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

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2) Select Additional Test Options

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