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Distal Arthrogryposis Type 5D (DA5D) via the ECEL1 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
11279 ECEL1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11279ECEL181479 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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Distal arthrogryposis (DA) syndromes are a group of multiple congenital contracture disorders with distal joint involvement and variable clinical expression. Distal arthrogryposis type 5D (DA5D) is an autosomal recessive DA syndrome with unique facial features (McMillin et al. 2013. PubMed ID: 23261301). Clinical features include congenital contractures affecting mostly distal joints of upper and lower limbs, club feet, hip dislocation, short stature, and scoliosis. Campdodacytly is more severe in the fingers than the toes with the wrist and thumbs being adducted. Additional findings include ptosis, severe ophthalmoplegia, astigmatism, micrognathia, tongue groove, and cleft palate (Ullmann et al. 2018. PubMed ID: 30131190). A more severe presentation of multiple pterygia and fetal arthrogryposis has also been reported (Bayram et al. 2016. PubMed ID: 26752647).

Genetics

Distal arthrogryposis type 5D is inherited in an autosomal recessive manner. Reported causative variants include missense, nonsense, splicing, and small frameshift deletions/duplications and indels that result in premature protein termination (Human Gene Mutation Database).

The ECEL1 gene encodes the endothelin-converting enzyme-like 1 (ECEL1), a type II integral transmembrane zinc metalloprotease. The ECEL1 protein localizes to the brain and peripheral nerves during fetal development and is thought to play a role in neural and neuromuscular junction development (Dieterich et al. 2013. PubMed ID: 23236030; McMillin et al. 2013. PubMed ID: 23261301).

Clinical Sensitivity - Sequencing with CNV PGxome

Five of seven families with the features of distal arthrogryposis type 5D were found to have ECEL1 pathogenic variants (McMillin et al. 2013. PubMed ID: 23261301). In another study, six families were found to have ECEL1 pathogenic variants among a cohort of 20 families with non-specific distal arthrogryposis (Dieterich et al. 2013. PubMed ID: 23236030). In a larger cohort of 38 families with fetal akinesia, arthrogryposis, or severe congenital myopathy, one family was found to harbor ECEL1 pathogenic variants (Todd. 2015. PubMed ID: 26578207). To date, no gross deletions or duplications in the ECEL1 gene have been reported (Human Gene Mutation Database). All coding and non-coding regions of the ECEL1 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 by this test.

Testing Strategy

This test provides full coverage of all coding exons of the ECEL1 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

Individuals with clinical symptoms consistent with distal arthrogryposis and facial features consistent with DA5D. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ECEL1.

Gene

Official Gene Symbol OMIM ID
ECEL1 605896
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Arthrogryposis, distal, type 5D AR 615065

Citations

  • Bayram et al. 2016. PubMed ID: 26752647
  • Dieterich et al. 2013. PubMed ID: 23236030
  • Human Gene Mutation Database (Biobase)
  • McMillin et al. 2013. PubMed ID: 23261301
  • Todd . 2015. PubMed ID: 26578207
  • Ullmann et al. 2018. PubMed ID: 30131190

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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