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Char Syndrome via the TFAP2B 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
TFAP2B 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9957TFAP2B81479 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


  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Char syndrome is a rare genetic disorder characterized by typical facial features including a flat midface and nasal bridge, a broad flat nasal tip, downslanting palpebral fissures with mild ptosis and a short philtrum (Gelb 2013). Cardiac defects include patent ductus arteriosus. Other clinical features include aplasia or hypoplasia of the middle phalanges of the fifth fingers. For more information see GeneReviews.


Char syndrome is inherited in an autosomal dominant manner. TFAP2B encodes for the transcription factor AP-2beta, which is expressed in neural crest cells and regulates the differentiation of these cells. Disruption of this process leads to the clinical findings associate with Char syndrome. The majority of documented causative mutations identified to date affect DNA binding or the transactivation domain (Satoda et al. 2000, Zhao et al. 2001, Mani et al. 2005). Mutations that affect splicing have also been reported (Mani et al. 2005). In addition to Char syndrome, TFAP2B mutations have been found in patients with patent ductus arteriosus without other clinical features associated with Char syndrome (Chen et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in TFAP2B are found in approximately 50% of patients with Char syndrome (Satoda et al. 2000, Zhao et al. 2001, Mani et al. 2005).

Gross deletions and duplications have not been reported in the TFAP2B gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the TFAP2B 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

Patients with symptoms suggestive of Char syndrome and patients with patent ductus arteriosus.


Official Gene Symbol OMIM ID
TFAP2B 601601
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Char Syndrome AD 169100


  • Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F. 2011. Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. Pediatr Cardiol. 32:958–65 PubMed ID: 21643846
  • Gelb, B. 2013. Char Syndrome GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle. PubMed ID: 20301285
  • Human Gene Mutation Database (Bio-base).
  • Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, Lifton RP. 2005. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. PNAS 102:2975–2979. PubMed ID: 15684060
  • Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. 2000. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 25:42–6 PubMed ID: 10802654
  • Zhao F, Weismann CG, Satoda M, Pierpont MEM, Sweeney E, Thompson EM, Gelb BD. 2001. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. The American Journal of Human Genetics 69: 695–703. PubMed ID: 11505339


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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