Loeys-Dietz Syndrome Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4289 SMAD3 81479,81479 Order Options and Pricing
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4289Genes x (5)81479 81405, 81479 $640 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

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 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Loeys-Dietz syndrome (LDS) is characterized by two major clinical features: vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Additional variable features include craniofacial abnormalities (ocular hypertelorism, bifid uvula/cleft palate and craniosynostosis) and cutaneous findings (translucent skin, easy bruising and dystrophic scars) (Loeys et al. 2005. PubMed ID: 15731757). Two clinical entities of LDS have been described (types 1 and 2), which represent a continuum of clinical features. Approximately 75% of patients with LDS type 1 have craniofacial manifestations, while approximately 25% of patients with LDS type 2 have cutaneous manifestations (Loeys et al. 2005. PubMed ID: 15731757; Loeys et al. 2006. PubMed ID: 16928994). LDS is usually characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and high incidence of pregnancy-related complications including death and uterine rupture (Loeys et al. 2005. PubMed ID: 15731757). Clinical features of LDS overlap with Marfan syndrome (Loeys et al. 2005. PubMed ID: 15731757; Loeys and Dietz. 2013. PubMed ID: 20301312).

Genetics

LDS is inherited in an autosomal dominant manner due to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 (Loeys et al. 2005. PubMed ID: 15731757; Mizuguchi et al. 2004. PubMed ID: 15235604; Rienhoff et al. 2013. PubMed ID: 23824657). TGFBR1, TGFBR2, SMAD3, and TGFB2 are all involved in TGFβ signaling. TGFB2 is a cytokine, TGFBR1 and TGFBR2 are receptors and SMAD3 is a signal transducer and transcription factor. The majority of documented causative variants in TGFBR1, TGFBR2, and SMAD3 are missense (Loeys et al. 2005. PubMed ID: 15731757; Loeys et al. 2006. PubMed ID: 16928994; Stheneur et al. 2008. PubMed ID: 18781618; Lerner-Ellis et al. 2014. PubMed ID: 24793577). A combination of truncating variants (nonsense, frameshifts) and missense variants have been found in TGFB2 and TGFB3 (Lindsay et al. 2012. PubMed ID: 22772368, Boileau et al. 2012. PubMed ID: 22772371; Rienhoff et al. 2013. PubMed ID: 23824657; Schepers et al. 2018. PubMed ID: 29392890). Individuals who harbor a SMAD3 pathogenic variant are at an increased risk for osteoarthritis (van de Laar et al. 2011. PubMed ID: 21217753; van de Laar et al. 2012. PubMed ID: 22167769). Approximately 25% of cases are familial and 75% of cases are de novo (Loeys and Dietz. 2013. PubMed ID: 20301312).

Clinical Sensitivity - Sequencing with CNV PG-Select

Approximately 95% of Loeys-Dietz cases are found to have a pathogenic variant in TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3 (Loeys and Dietz. 2013. PubMed ID: 20301312).

Testing Strategy

This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with Loeys-Dietz syndrome and family members of patients with these symptoms.

Genes

Official Gene Symbol OMIM ID
SMAD3 603109
TGFB2 190220
TGFB3 190230
TGFBR1 190181
TGFBR2 190182
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Boileau et al. 2012. PubMed ID: 22772371
  • Lerner-Ellis et al. 2014. PubMed ID: 24793577
  • Lindsay et al. 2012. PubMed ID: 22772368
  • Loeys and Dietz. 2013. PubMed ID: 20301312
  • Loeys et al. 2005. PubMed ID: 15731757
  • Loeys et al. 2006. PubMed ID: 16928994
  • Mizuguchi et al. 2004. PubMed ID: 15235604
  • Rienhoff et al. 2013. PubMed ID: 23824657
  • Schepers et al. 2018. PubMed ID: 29392890
  • Stheneur et al. 2008. PubMed ID: 18781618
  • van de Laar et al. 2011. PubMed ID: 21217753
  • van de Laar et al. 2012. PubMed ID: 22167769

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.

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 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.

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