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Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 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
11585 PIEZO2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11585PIEZO281479 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.

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, variable clinical expression, and most often autosomal dominant inheritance (Bamshad et al. 2009).

Pathogenic variants in PIEZO2 cause Gordon syndrome and distal arthrogryposis type 5. Gordon syndrome (distal arthrogryposis type 3) is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet (Bamshad et al. 2009). Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles (Okubo et al. 2015).

Genetics

Pathogenic variants in PIEZO2 gene cause Distal Arthrogryposis type 5 or 3 and are inherited in autosomal dominant pattern. PIEZO2 (Piezo-type mechanosensitive ion channel component 2) contains 52 exons, encodes 2752 amino acids and spans over 48 kb on Chromosome 18p11.21 (Coste et al. 2010). The protein encoded by PIEZO2 is an essential component of mechanosensory ion channels, which transduce mechanical forces to biological signals and is responsible for a variety of mechanosensory responses, such as, light touch, proprioception, pain, etc. (Coste et al 2010). A functional study indicated that pathogenic variants in PIEZO2 could increase channels activity by slowing inactivation or recovering faster from inactivation (Coste et al. 2013). Only missense pathogenic variants and small deletions have been reported (Human Gene Mutation Database). Nonsense variants, large deletions/duplications or rearrangements have not been documented (HGMD).      

Clinical Sensitivity - Sequencing with CNV PGxome

It has been reported that pathogenic variants in PIEZO2 were identified in 24/29 (82%) distal arthrogryposis type 5-affected families and in 10 out of 12 (83%) Gordon syndrome-affected families (McMillin et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the PIEZO2 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

All patients with symptoms suggestive of  distal arthrogryposis are candidates for this test.

Gene

Official Gene Symbol OMIM ID
PIEZO2 613629
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Bamshad M. et al. 2009. The Journal of Bone and Joint Surgery. American Volume. 91 Suppl 4: 40-6. PubMed ID: 19571066
  • Coste B. et al. 2010. Science. 330: 55-60. PubMed ID: 20813920
  • Coste B. et al. 2013. Proceedings of the National Academy of Sciences of the United States of America. 110: 4667-72. PubMed ID: 23487782
  • Human Gene Mutation Database (Bio-base).
  • McMillin M.J. et al. 2014. American Journal of Human Genetics. 94: 734-44. PubMed ID: 24726473
  • Okubo M. et al.. 2015. American Journal of Medical Genetics. Part A. 167A: 1100-6. PubMed ID: 25712306

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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