Generalized Arterial Calcification of Infancy via the ENPP1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
15157 ENPP1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15157ENPP181479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

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

Clinical Features and Genetics

Clinical Features

Generalized arterial calcification of infancy (also referred as Idiopathic infantile arterial calcification) is a rare infantile onset calcification of the internal elastic lamina of medium and large arteries and arterial stenosis due to myointimal proliferation (Rutsch et al. 2003. PubMedID: 12881724; Chong and Hutchins. 2008. PubMed ID: 17990935). The major early clinical features include fetal distress, heart failure, hydramnios, respiratory distress, hydrops fetalis, fetal edema, cyanosis, effusions in the pleural, peritoneal, pericardial spaces and cardiomegaly. The major late clinical features are respiratory distress, cyanosis, feeding difficulties, and heart failure (Chong and Hutchins. 2008. PubMed ID: 17990935). Without proper medical management, ~60% of the patients die from cardiovascular complications or renal artery stenosis within the first 6 months of life (Rutsch et al. 2001. PubMed ID: 11159191; Rutsch et al. 2008. PubMed ID: 20016754; Ferreira et al. 2014. PubMed ID: 25392903).

Genetics

Generalized arterial calcification of infancy is inherited in an autosomal recessive manner caused by pathogenic variants in the ENPP1 and ABCC6 genes.

Pathogenic variants in the ENPP1 gene have been reported in 75% of patients with autosomal recessive generalized arterial calcification of infancy (Rutsch et al. 2008. PubMed ID: 20016754). The ENPP1 protein coded by the ENPP1 gene is a member of the nucleotide pyrophosphatase/phosphodiesterase family and plays a role in regulating pyrophosphate levels. ENPP1 functions in bone mineralization and soft tissue calcification (Rutsch et al. 2001. PubMed ID: 11159191). To date, almost 70 unique pathogenic variants in the ENPP1 gene have been reported. They are: missense (67%), truncating including nonsense, small frameshift del/dup and indels (23%), splicing (10%) and one large deletion involving exons 24-25 of the ENPP1 gene (Rutsch et al. 2008. PubMed ID: 20016754; Lorenz-Depiereux et al. 2010. PubMed ID: 20137773, Human Gene Mutation Database). Pathogenic variants in ENPP1 have also been reported in patient with autosomal dominant Cole disease (Eytan et al. 2013. PubMed ID: 24075184), and autosomal recessive hypophosphatemic rickets (Steichen-Gersdorf et al. 2015. PubMed ID: 25741938).

Clinical Sensitivity - Sequencing with CNV PG-Select

In one study, pathogenic variants in the ENPP1 gene have been reported in 75% of patients with clinically diagnosed generalized arterial calcification of infancy (Rutsch et al. 2008. PubMed ID: 20016754). Only one large deletion involving exons 24-25 of the ENPP1 gene has been reported (Lorenz-Depiereux et al. 2010. PubMed ID: 20137773).

Testing Strategy

This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the ENPP1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with a clinical suspicion of generalized arterial calcification of infancy, and family members of patients who have a known ENPP1 causative variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ENPP1.

Gene

Official Gene Symbol OMIM ID
ENPP1 173335
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Chong and Hutchins. 2008. PubMed ID: 17990935
  • Eytan et al. 2013. PubMed ID: 24075184
  • Ferreira et al. 2014. PubMed ID: 25392903
  • Human Gene Mutation Database (Biobase).
  • Lorenz-Depiereux et al. 2010. PubMed ID: 20137773
  • Rutsch et al. 2001. PubMed ID: 11159191
  • Rutsch et al. 2003. PubMed ID: 12881724
  • Rutsch et al. 2008. PubMed ID: 20016754
  • Steichen-Gersdorf et al. 2015. PubMed ID: 25741938

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

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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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