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Adams-Oliver Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ARHGAP31 81479,81479
DLL4 81479,81479
DOCK6 81479,81479
EOGT 81479,81479
KCTD1 81479,81479
MYH9 81479,81479
NOTCH1 81407,81479
RBPJ 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13027Genes x (8)81479 81407(x1), 81479(x15) $990 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 Custom Panel tool.

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).

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


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Adams-Oliver syndrome (AOS) is a congenital condition characterized mainly by aplasia cutis congenita and limb defects with an estimated incidence of 1 in 225,000 live births (Saeidi and Ehsanipoor. 2017. PubMed ID: 29387678). The clinical features include congenital missing skin typically on the top of the skull, tapering fingers, and hyperplastic distal phalanges of the hands and feet. Some patients may have heart problems, including ventricular septal defect and patent ductus arteriosus (Shaheen et al. 2013. PubMed ID: 23522784; Hassed et al. 2012. PubMed ID: 22883147; Lehman et al. 2016. PubMed ID: 27077170; Meester et al. 2018. PubMed ID: 29924900). Pathogenic variants in KCTD1 are associated with Scalp-Ear-Nipple (SEN) syndrome, which is characterized by cutis aplasia of the scalp; minor defects of the external ears, digits, and nails; and malformed breast (Marneros et al. 2013. PubMed ID: 23541344). Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with Adams-Oliver syndrome or related conditions.


Pathogenic variants in ARHGAP31DLL4NOTCH1RBPJ, and MYH9 cause autosomal dominant AOS, while pathogenic variants in DOCK6 and EOGT cause autosomal recessive Adams-Oliver syndrome (Shaheen et al. 2013. PubMed ID: 23522784; Hassed et al. 2012. PubMed ID: 22883147; Isrie et al. 2014. PubMed ID: 24668619; Uyeda et al. 2012. PubMed ID: 22631568; Lehman et al. 2016. PubMed ID: 27077170). This panel includes genes known to cause Adams-Oliver syndrome, as well as KCTD1, which is involved in autosomal dominant scalp-ear-nipple syndrome (Marneros et al. 2013. PubMed ID: 23541344). 

The DOCK6 and ARHGAP31 proteins are GTPase-accelerating proteins (GAP) and serve as switches between inactive GDP-bound and active GTP-bound, particularly during development of the limbs, skull, and heart (Southgate et al. 2011. PubMed ID: 21565291). The DLL4, NOTCH1, RBPJ, and EOGT proteins are involved in the NOTCH signal pathway which regulates cell-fate determination during development and maintains adult tissue homeostasis (Hori et al. 2013. PubMed ID: 23729744). The types of pathogenic variants reported include missense, nonsense, splicing, small deletion/insertion, large deletion/insertion, regulatory and complex rearrangment (Human Gene Mutation Database).

In the following table are the shown the fraction of AOS cases that are explained by pathogenic variants in the indicated genes.

Gene % of AOS
ARHGAP31 <5% 
DLL4 ~10% 
DOCK6 ~17% 
EOGT <10% 
NOTCH1 ~23% 
RBPJ <10%

Table from Lehman et al. 2016.

At least one de novo MYH9 pathogenic variant was reported in one patient with congenital scalp hemangioma (Fomchenko. 2018. PubMed ID: 29903892).

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants were found in 36%-50% of Adams-Oliver syndrome cases (Lehman et al. 2016. PubMed ID: 27077170; Meester et al. 2018. PubMed ID: 29924900). Large deletions or duplications were reported in NOTCH1, RBPJ, and DOCK6 (Westphal. 2019. PubMed ID: 30868567; Liang et al. 2016. PubMed ID: 28030855; Sukalo et al. 2015. PubMed ID: 25824905; Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all 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. 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 Adams-Oliver syndrome and Scalp-Ear-Nipple syndrome.  


Official Gene Symbol OMIM ID
ARHGAP31 610911
DLL4 605185
DOCK6 614194
EOGT 614789
KCTD1 613420
MYH9 160775
NOTCH1 190198
RBPJ 147183
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Fomchenko. 2018. PubMed ID: 29903892
  • Hassed et al. 2012. PubMed ID: 22883147
  • Hori et al. 2013. PubMed ID: 23729744
  • Human Gene Mutation Database (Biobase).
  • Isrie et al. 2014. PubMed ID: 24668619
  • Lehman et al. 2016. PubMed ID: 27077170
  • Liang et al. 2016. PubMed ID: 28030855
  • Marneros et al. 2013. PubMed ID: 23541344
  • Meester et al. 2018. PubMed ID: 29924900
  • Saeidi and Ehsanipoor. 2017. PubMed ID: 29387678
  • Shaheen et al. 2013. PubMed ID: 23522784
  • Southgate et al. 2011. PubMed ID: 21565291
  • Southgate et al. 2011. PubMed ID: 21565291
  • Sukalo et al. 2015. PubMed ID: 25824905
  • Uyeda et al. 2012. PubMed ID: 22631568
  • Westphal. 2019. PubMed ID: 30868567


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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