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Spondylocostal Dysostosis via the HES7 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
HES7 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9995HES781479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Spondylocostal Dysostosis (SCD) is characterized by abnormal segmentation of the vertebral column. Patients have short trunks with multiple vertebral defects and rib anomalies (Turnpenny et al. 2003). Four autosomal recessive forms (Types 1-4, OMIM 277300, 608681, 609813, and 613686) and at least one autosomal dominant of SCD are known. Mutations in the genes involved in the Notch signal pathway (MESP2, DLL3, LFNG and HES7) are associated with autosomal recessive SCD, and mutations in the TBX6 gene are responsible for autosomal dominant SCD.


The HES7 protein coded by the HES7 gene belongs to the basic helix-loop-helix (bHLH) super family that regulates many biological processes during embryonic development. The HES7 protein controls the activity of genes in the Notch pathway, which plays a key role in the development of the axial skeleton, particularly in somite segmentation during early development (Sparrow et al. 2008). To date, only four unique pathogenic variants (3 missense and one truncating mutation resulted from a small duplication) were identified in two affected families with autosomal recessive spondylocostal dysostosis (Sparrow et al. 2008 and 2010; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to limited publications, clinical sensitivity is currently unknown. No large deletions and duplication were reported. The mutation detection rate should be high, because only four unique HES7 mutations (3 missense mutations and 1 small duplication) were reported in two affected families (Human Gene Mutation Database, Sparrow et al. 2008 and 2010).

Testing Strategy

This test provides full coverage of all coding exons of the HES7 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 autosomal recessive SCD and the family members of patients who have known HES7 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HES7.


Official Gene Symbol OMIM ID
HES7 608059
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Spondylocostal Dysostosis 4 AR 613686

Related Tests

Spondylocostal Dysostosis via the DLL3 Gene
Spondylocostal Dysostosis via the LFNG Gene


  • Human Gene Mutation Database (Bio-base).
  • Sparrow DB, Guillen-Navarro E, Fatkin D, Dunwoodie SL. 2008. Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis. Human Molecular Genetics 17: 3761–3766. PubMed ID: 18775957
  • Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL. 2010. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet 18: 674–679. PubMed ID: 20087400
  • Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. 2003. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 40: 333-339. PubMed ID: 12746394


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