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Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 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
9049 MESP2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9049MESP281479 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

Spondylocostal Dysostosis (SCD) is characterized by abnormal segmentation of the vertebral column. Spondylothoracic Dysostosis (STD) (also referred as Jarcho-Levin syndrome) is a form of SCD (Turnpenny et al. 2003). Patients have short trunks with multiple vertebral defects and rib anomalies (Turnpenny et al. 2003). Four autosomal recessive forms (Types 1-4) and at least one autosomal dominant form of SCD are known. Pathogenic variants in the genes involved in the Notch signal pathway (MESP2, DLL3, LFNG and HES7) are associated with autosomal recessive SCD, and pathogenic variants in the TBX6 gene are responsible for autosomal dominant SCD. TBX6 is a regulator for Notch signal pathway and a member of the T-box DNA-binding domain family (Takemoto et al. 2011).

Genetics

SCD Type 2 is an autosomal recessive condition caused by pathogenic variants in the MESP2 gene. MESP2 pathogenic variants have been reported in a number of Puerto Rican families with STD (Cornier et al. 2004; Cornier et al. 2008) as well as one Lebanese family with SCD (Whittock et al. 2004). Most of patients with Puerto Rican origin carry a homozygous nonsense variant p.Glu103*, likely indicating a founder effect. Affected children from the reported Lebanese family were homozygous for a frameshift variant (c.500_503dupACCG). At PreventionGenetics, we identified a homozygous whole MESP2 gene deletion in one SCD patient.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic MESP2 variants were found in all studied 14 Puerto Rican spondylocostal dysostosis (SCD) families (Cornier et al. 2008). The percent of spondylothoracic dysostosis caused by pathogenic variants in MESP2 may vary by ethnic background. Probably <5% of SCD patients have causative variants in MESP2 (Sparrow et al. 2006).

At PreventionGenetics, we identified a homozygous whole MESP2 gene deletion in one SCD patient.

Testing Strategy

This test provides full coverage of all coding exons of the MESP2 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 clinical and radiographic findings consistent with SCD/STD, and family members of patients who have a known MESP2 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MESP2.

Gene

Official Gene Symbol OMIM ID
MESP2 605195
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Spondylocostal Dysostosis 2 AR 608681

Related Tests

Name
Spondylocostal Dysostosis via the DLL3 Gene
Spondylocostal Dysostosis via the HES7 Gene

Citations

  • Cornier A.S. et al. 2004. American Journal of Medical Genetics. Part A. 128A: 120-6. PubMed ID: 15214000
  • Cornier et al. 2008. PubMed ID: 18485326
  • Sparrow D.B. et al. 2006. The American Journal of Human Genetics. 78: 28–37. PubMed ID: 16385447
  • Takemoto T. et al. 2011. Nature. 470: 394-8. PubMed ID: 21331042
  • Turnpenny P.D. et al. 2003. Journal of Medical Genetics. 40: 333-9. PubMed ID: 12746394
  • Whittock N.V. et al. 2004. American Journal of Human Genetics. 74: 1249-54. PubMed ID: 15122512

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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