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Craniofrontonasal Syndrome via the EFNB1 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
EFNB1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8851EFNB181479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

EFNB1-related craniofrontonasal syndrome is mainly characterized by hypertelorism, broad nasal tip, brachycephaly, coronal suture synostosis, strabismus, frontal bossing, bifid nasal tip, and high-arched palate. Some less common features include asymmetric lower limbs, grooved nails, thick/wiry hair, webbed neck/short neck, cleft lip and/or palate, and corpus callosum hypoplasia or agenesis. Over 98% of patients had normal mental development (Wieacker and Wieland 2005).


EFNB1-related craniofrontonasal dysplasia shows an unusual X-linked inheritance pattern. Heterozygous female patients generally present more severe clinical features than hemizygous male patients (Wieland et al. 2005). Male patients may only have hypertelorism, however, a few males mosaic for an EFNB1 pathogenic variant had severe clinical presentations (Twigg et al. 2013). The EFNB1 protein is a member of the ligand of Eph-related receptor tyrosine kinases, which may play roles during embryonic morphogenesis. Over 100 EFNB1 pathogenic variants have been reported. They include: missense (37%), nonsense: (10%), splicing (10%), small deletion/insertions (33%), gross deletion/insertion (10%) and one pre-coding point pathogenic variant (Wieland et al. 2005; Twigg et al. 2006; Twigg et al. 2013; Human Gene Mutation Database). Wieland et al. studied 9 familial and 29 sporadic craniofrontonasal dysplasia patients and identified pathogenic variants in 8/9 familial cases and 25/29 sporadic cases, respectively. De novo variants were seen in 6 out of the 25 sporadic cases. The c.196C>T (p.Arg66*) variant was seen in one familial and four sporadic cases (Wieland et al. 2005).

Clinical Sensitivity - Sequencing with CNV PGxome

EFNB1 pathogenic variants were detected in 33 out of 38 unrelated clinical suspected craniofrontonasal dysplasia patients (Wieland et al. 2005).

Testing Strategy

This test provides full coverage of all coding exons of the EFNB1 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

Candidates for this test are patients with symptoms consistent with X-linked Craniofrontonasal syndrome, and the family members of patients who have known EFNB1 pathogenic variants.


Official Gene Symbol OMIM ID
EFNB1 300035
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Craniofrontonasal Dysplasia XL 304110

Related Tests

FGFR3-Related Disorders via the FGFR3 Gene
Achondroplasia via the FGFR3 Gene, Exon 10
Craniosynostosis via the MSX2 Gene
Frontonasal Dysplasia (Frontorhiny) via the ALX3 Gene
Saethre-Chotzen Syndrome via the TWIST1 Gene


  • Human Gene Mutation Database (Bio-base).
  • Twigg S.R. et al. 2006. American Journal of Human Genetics. 78: 999-1010. PubMed ID: 16685650
  • Twigg S.R. et al. 2013. Human Molecular Genetics. 22: 1654-62. PubMed ID: 23335590
  • Wieacker P., Wieland I. 2005. Molecular Genetics and Metabolism. 86: 110-6. PubMed ID: 16143553
  • Wieland I. et al. 2005. Human Mutation. 26: 113-8. PubMed ID: 15959873


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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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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