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
7955 OTX2 81479,81479 Order Options and Pricing
PRRX1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7955Genes x (2)81479 81479 $890 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 PGxome Custom Panel tool.

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.

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

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.

Genetics

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.

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

Individuals with features of agnathia-otocephaly complex.

Genes

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

Disease

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

Related Test

Name
PGxome®

Citations

  • 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/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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