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Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 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
WDR35 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11803WDR3581479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Cranioectodermal dysplasia, also known as Sensenbrenner syndrome (CED; OMIM 218330), is clinically and genetically heterogeneous ciliopathic disorder. CED is characterized by craniofacial, skeletal, and ectodermal anomalies (Levin et al. J Pediatr 90:55-61, 1977; Young J Med Genet 26:393-396, 1989; Eke et al. Br J Ophthalmol 80:490-491, 1996; Konstantinidou et al. A J Med Genet 149A:2206-2211, 2009; Walczak-Sztulpa et al. Am J Hum Genet 86:949-956, 2010). CED2 (OMIM 613610) has been reported in two unrelated patients with craniosynostosis, dolichocephaly, narrow thorax with pectus excavatum, short limbs, brachydactyly, and short stature. Facial features included narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. (Gilissen et al. Am J Hum Genet 87:418-423, 2010). Other clinical features include teeth abnormalities, joint laxity, inguinal hernia, and webbed fingers, with no evidence of cognitive impairment, renal, or hepatic disease (Gilissen et al. 2010).

The short rib-polydactyly syndromes (SRP) are a group of autosomal recessive lethal skeletal dysplasias characterized by skeletal defects, short ribs, short limbs, polydactyly, and multiple organs anomalies, including heart, kidney, and brain (Mill et al. Am J Hum Genet 88:508-515, 2011). SRP5 (OMIM 614091) is associated with acromesomelic hypomineralization, campomelia and ciliopathy phenotypes, including polysyndactyly, laterality defects, and cystic kidney (Mill et al. 2011). 


CED2 and SRP are inherited in an autosomal recessive manner. Variants in the WDR35 gene cause CED2 or SRP5 (Gilissen et al. Am J Hum Genet 87:418-423, 2010; Mill et al. Am J Hum Genet 88:508-515, 2011). WDR35 gene encodes the WDR35 protein, which contains N-terminal WD40 repeats and C-terminal tetratricopeptide repeats (Gilissen et al. 2010; Mill et al. 2011). The WDR35 protein is a component of the intraflagellar transport complex A, which is involved in the retrograde ciliary transport, an important process for cilia assembly and maintenance (Gilissen et al. 2010; Mill et al. 2011). A mix of missense, nonsense, splicing, frameshift, and gross deletion variants within the WDR35 gene have been reported (Gilissen et al. 2010; Mill et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Sensitivity of this test is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the WDR35 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 CED2 or SRP5 and family members of patients who have known WDR35 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in WDR35.


Official Gene Symbol OMIM ID
WDR35 613602
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Eke, T., et.al. (1996). "A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia." Br J Ophthalmol 80(5): 490-1. PubMed ID: 8695580
  • Gilissen, C., et.al. (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome." Am J Hum Genet 87(3): 418-23. PubMed ID: 20817137
  • Konstantinidou, A. E., et.al. (2009). "Cranioectodermal dysplasia: a probable ciliopathy." Am J Med Genet A 149A(10): 2206-11. PubMed ID: 19760621
  • Levin, L. S., et.al. (1977). "A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia." J Pediatr 90(1): 55-61. PubMed ID: 830894
  • Mill, P., et.al. (2011). "Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis." Am J Hum Genet 88(4): 508-15. PubMed ID: 21473986
  • Walczak-Sztulpa, J., et.al. (2010). "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene." Am J Hum Genet 86(6): 949-56. PubMed ID: 20493458
  • Young, I. D. (1989). "Cranioectodermal dysplasia (Sensenbrenner's syndrome)." J Med Genet 26(6): 393-6. PubMed ID: 2661822


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

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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