DNA icon

Ehlers-Danlos syndrome Musculocontractural Type 1 via the CHST14 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
CHST14 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
12055CHST1481479 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


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Pathogenic variants in CHST14 have been reported in patients with adducted thumb-clubfoot syndrome (ATCS) as well as musculocontratural Ehlers-Danlos syndrome (MCEDS). These two disorders are considered a single clinical entity with variable expression and different presentations based on the patients' ages. Ehlers-Danlos syndrome (EDS) pertains to a clinically and genetically heterogeneous group of heritable connective tissue disorders that mainly affect the skin, joints, ligaments, blood vessels, and internal organs (Byers and Murray. 2012. PubMed ID: 23154631). The clinical hallmarks of EDS include skin hyperelasticity, joint hypermobility, and pronounced tissue fragility. Clinical features of CHST14-related disorders include joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility; craniofacial features; multiple congenital contractures; and congenital defects in cardiovascular, gastrointestinal, renal, ocular, and central nervous systems (Miyake et al. 2010. PubMed ID: 20533528; Shimizu et al. 2011. PubMed ID: 21744491).


CHST14-related disorders are inherited in an autosomal recessive manner. Causative variants reported in this gene to date are missense, nonsense, small frameshift deletions/duplications and indels resulting in premature protein termination, and a larger 25 bp deletion (Human Gene Mutation Database).

The CHST14 gene encodes dermatan 4-O-sulfotransferase 1 (D4ST1) which transfers active sulfate to N-acetyl-D-galatosamine (GalNAc) residues of dermatan sulfate.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the low incidence of this disorder clinical sensitivity cannot be precisely estimated. However, all coding and non-coding regions of the CHST14 gene that harbor causative variants reported in the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/) as of 06/28/2019 are covered in this test.

Testing Strategy

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV-calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

This test provides full coverage of all coding exons of the CHST14 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 include individuals with clinical symptoms consistent with musculocontratural Ehlers-Danlos syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CHST14.


Official Gene Symbol OMIM ID
CHST14 608429
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Ehlers-Danlos Syndrome, Musculocontractural Type AR 601776


  • Byers and Murray. 2012. PubMed ID: 23154631
  • Human Gene Mutation Database (Biobase).
  • Miyake et al. 2010. PubMed ID: 20533528
  • Shimizu et al. 2011. PubMed ID: 21744491


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

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.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard