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Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 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
DDR2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8189DDR281479 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

Spondylo-meta-epiphyseal dysplasia with short limb and abnormal calcification (SMED-SL; OMIM 271665) is a growth disorder characterized by disproportionate short stature, short limbs, short broad fingers, abnormal metaphyses and epiphyses, platyspondyly, and premature calcifications (Borochowitz et al. Am J Med Genet 45:320-326, 1993; Langer et al. Am J Med Genet 45:488-500, 1993; Bargal et al. Am J Hum Genet 84:80-84, 2009; Ali et al. Hum Mol Genet 19:2239-2250, 2010). Additional findings include a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest (Borochowitz et al. 1993; Langer et al. 1993).


Spondylo-meta-epiphyseal dysplasia with short limb and abnormal calcification is an autosomal recessive disorder caused by variants in the DDR2 gene (Bargal et al. 2009). The DDR2 gene encodes a cell-surface receptor known as discoidin domain receptor 2 (DDR2), a member of the receptor tyrosine kinase family (Bargal et al. 2009). The DDR2 receptor is mainly expressed in mesenchymal cells and consists of extracellular domains, including the discoidin domain and the stalk domain, and intracellular domains, including the juxtamembrane domain and the cytosolic tyrosine kinase domain (Ali et al. 2010). The binding of the discoidin domain of the DDR2 receptor to fibrillar collagen is crucial for the activation of the tyrosine kinase signal transduction (Bargal et al. 2009; Ali et al. 2010). The DDR2 receptor has an important role in fundamental processes including cell proliferation, adhesion, and migration as well as extracellular matrix remodeling (Ali et al. 2010). A mix of missense and splicing variants have been reported in DDR2 gene (Bargal et al. 2009; Ali et al. 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

The prevalence of the DDR2 variants is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the DDR2 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 spondylo-meta-epiphyseal dysplasia with short limb and family members of patients who have known DDR2 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DDR2.


Official Gene Symbol OMIM ID
DDR2 191311
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Ali, B. R., et.al. (2010). "Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients." Hum Mol Genet 19(11): 2239-50. PubMed ID: 20223752
  • Bargal, R., et.al. (2009). "Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications." Am J Hum Genet 84(1): 80-4. PubMed ID: 19110212
  • Borochowitz, Z., et.al. (1993). "Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology." Am J Med Genet 45(3): 320-6. PubMed ID: 8434618
  • Langer, L. O., Jr., et.al. (1993). "Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features." Am J Med Genet 45(4): 488-500. PubMed ID: 8465857


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

1) Select Test Method (Platform)

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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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