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Cranioectodermal Dysplasia 1 (CED1) via the IFT122 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
11385 IFT122 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11385IFT12281479 81479,81479 $890 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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Cranioectodermal dysplasia 1, also known as Sensenbrenner syndrome (CED1; OMIM 218330) 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). CED1 patients demonstrate high degree of phenotypic variations. CED1 dysmorphic features noticed at birth include short limbs, short-narrow thorax, brachydactyly, dolichocephaly, prominent forehead, telecanthus, broad nasal bridge, low-set and prominent ears, sparse hair, widely spaced teeth, and abnormal nails (Levin et al. 1977; Young 1989; Eke et al. 1996; Walczak-Sztulpa et al. 2010). Other clinical features noticed at early childhood include end-stage renal failure and cardiac anomalies. In addition, a few patients had electroretinographic abnormalities (Eke et al. 1996). Of note, CED1 patients have normal psychomotor development and normal intelligence (Young 1989; Eke et al. 1996; Walczak-Sztulpa et al. 2010).

Genetics

Cranioectodermal dysplasia 1 is inherited in an autosomal recessive manner. Variants in the IFT122 gene cause CED1 (Walczak-Sztulpa et al. Am J Hum Genet 86:949-956, 2010). IFT122 gene encodes the IFT122 protein, which contains seven WD40 domains forming the β-propeller structures important for protein-protein interaction (Orlicky et al. Cell 112:243-256, 2003; Walczak- Sztulpa et al. 2010). The IFT122 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 (Tsao et al. J Cell Sci 121:428-436, 2008; Pedersen and Rosenbaum. Curr Top Dev Biol 85:23-61, 2008; Walczak-Sztulpa et al. 2010). Three missense variants and one splicing variant within the IFT122 gene have been reported (Walczak-Sztulpa et al. 2010).

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 IFT122 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 cranioectodermal dysplasia 1 and family members of patients who have known IFT122 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in IFT122.

Gene

Official Gene Symbol OMIM ID
IFT122 606045
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cranioectodermal Dysplasia AR 218330

Citations

  • 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
  • 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
  • Orlicky, S., et.al. (2003). "Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase." Cell 112(2): 243-56. PubMed ID: 12553912
  • Pedersen, L. B., Rosenbaum, J. L. (2008). "Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling." Curr Top Dev Biol 85: 23-61. PubMed ID: 19147001
  • Tsao, C. C., Gorovsky, M. A. (2008). "Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body." J Cell Sci 121(Pt 4): 428-36. PubMed ID: 18211962
  • 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/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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