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Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via the DCHS1 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
DCHS1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7987DCHS181479 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

Van Maldergem syndrome is a rare, severe neuronal developmental disorder characterized by intellectual disability, craniofacial, auditory, renal, skeletal and limb malformations, digital contractures, generalized hypotonia, together with partially penetrant periventricular neuronal heterotopia (Mansour et al. 2012). The distinctive facial appearance includes hypertelorism, blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus. Magnetic resonance imaging scan reveals periventricular neuronal heterotopia around the posterior horns of the cerebral ventricles extending to the anterior region in brain. The periventricular neuronal heterotopia, a specific form of mislocalization of cortical neurons, was observed in seven out of nine patients (Cappello et al. 2013).


DCHS1 was found to be a causative gene for Van Maldergem syndrome, which is inherited in an autosomal recessive manner (Cappello et al. 2013). DCHS1 encodes a transmembrane cell adhesion protein that belongs to the protocadherin superfamily. DCHS1 is a ligand for protocadherin receptor FAT4. Both molecules form an apically located adhesive complex during embyogenesis. Reduced DCHS1 and FAT4 protein leads to abnormal migraton and mispositioning of neuronal stem cells during the development of the cortex. DCHS and FAT4 are also involved in the Hippo signaling pathway in regulating neuronal proliferation and differentiation in the cerebral cortex (Mansour et al. 2012; Cappello et al. 2013). Mouse models showed that the normal function of the Dchs1-Fat4 signaling pathway is not only a fundamental role in neuronal development, but also is an essential requirement for the generation of tissue architecture during ambryogenesis, post-natal growth and tissue repair in multiple organs (ear, kidney, skeleton, intestine, heart and lung) (Mao et al. 2011, Zakaria et al. 2014). These findings may explain the pathogenesis of van Maldergem syndrome. Pathogenic variants include nonsense, missense and a small deletion (Cappello et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Van Maldergem syndrome can be caused by pathogenic variants in two genes, DCHS1 and FAT4. Out of seven Van Maldergem syndrome families in one study, DCHS1 pathogenic variants were found in three (Cappello et al 2013).

Testing Strategy

This test provides full coverage of all coding exons of the DCHS1 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

DCHS1 sequencing is recommended for patients who are suspected to have Van Maldergem syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DCHS1.


Official Gene Symbol OMIM ID
DCHS1 603057
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Van Maldergem Syndrome 1 AR 601390


  • Cappello S. et al. 2013. Nature Genetics. 45: 1300-8. PubMed ID: 24056717
  • Mansour S. et al. 2012. European Journal of Human Genetics : Ejhg. 20: 1024-31. PubMed ID: 22473091
  • Mao Y. et al. 2011. Development (cambridge, England). 138: 947-57. PubMed ID: 21303848
  • Zakaria S. et al. 2014. Current Biology : Cb. 24: 1620-7. PubMed ID: 24998526


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

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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