Loeys-Dietz Syndrome via the TGFBR1 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
7139 TGFBR1 81405 81405,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7139TGFBR181405 81405(x1), 81479(x1) $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

  • Chun-An Chen, PhD

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 is 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). Approximately 25% of LDS 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). Approximately 20% of cases have a pathogenic variant in TGFBR1 (Loeys and Dietz. 2013. PubMed ID: 20301312).

Testing Strategy

This test provides full coverage of all coding exons of the TGFBR1 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 symptoms consistent with Loeys-Dietz syndrome and family members.

Gene

Official Gene Symbol OMIM ID
TGFBR1 190181
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Loeys-Dietz Syndrome 1 AD 609192

Related Tests

Name
Comprehensive Cardiology Panel
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel
Loeys-Dietz Syndrome Panel
Sudden Cardiac Arrest Panel

Citations

  • Lerner-Ellis et al. 2014. PubMed ID: 24793577
  • 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
  • Stheneur et al. 2008. PubMed ID: 18781618

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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