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Agnathia-Otocephaly Complex via the PRRX1 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
PRRX1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8827PRRX181479 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.

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

Agnathia-otocephaly complex (AGOTC, OMIM 202650) is a rare malformation disorder that probably occurs early in embryogenesis (Schiffer, C. et al. Am J Med Genet 112(2): 203-208, 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 (Schiffer, C. et al., 2002). Affected babies have been reported to die in utero or shortly after birth.


Agnathia-otocephaly complex is an autosomal dominant disorder. One case of familial recurrence due to paternal gonadal mosaicism has been reported (Dasouki, M. et al. Am J Med Genet 161(4): 803-808, 2013). De novo inheritance of a PRRX1 mutation has also been proven (Donnelly, M. et al. Prenat Diagn 32(9): 903-905, 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical and analytical sensitivity are unknown due to the rarity of this disorder.

Testing Strategy

This test provides full coverage of all coding exons of the PRRX1 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

Individuals with features of agnathia-otocephaly complex.


Official Gene Symbol OMIM ID
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

Agnathia-Otocephaly Complex Panel


  • 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
  • Schiffer C. et al. 2002. American Journal of Medical Genetics. 112: 203-8. PubMed ID: 12244557


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)

1) Select Test Type

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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