Marfan Syndrome, Type 2 - TGFBR2 gene

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • TGFBR2
Alternate Names
  • Marfan's TGBR2
  • Marfan's Tier I
  • TGFBR2
Clinical Significance

Marfan syndrome is a connective tissue disorder with striking pleiotropism and clinical variability. Cardiac features are dilatation of the aortic root, aneurysm of the aorta and aortic dissection.  The cardiac symptoms often lead to premature death. Skeletal features are increased height, disproportionately long limbs, chest deformity, joint laxity, scoliosis and a narrow, highly arched palate with crowding of the teeth. Ocular features include myopia and ectopia lentis.
 
Classical Loeys-Dietz syndrome (LDS) is also an autosomal dominant aortic aneurysm syndrome. LDS is characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. The natural history of both conditions is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. The overlap of symptoms for these two conditions requires that a full analysis of Marfan syndrome must be extended to include reflexive analysis of theTGFBR1 and TGFBR2 genes.


Specimen Collection & Preparation

Required Forms & Information

Contact the Laboratory at 266-1500 (Option 1) for Payment Requirements of this test

*Send copy of insurance cards and proper paperwork with specimen to Parkview Health Laboratories

Pre-Authorization is required for this testing.

Blank St. Francis Requisition 

Informed Consent


Specimen Requirements:

-OR-

Two 5.0 mL Whole Blood in a Lavender Top Tubes - EDTA 
Minimum Volume:
0.7 mL Whole Blood EDTA*

* This volume does not allow for repeat testing

Rejection Criteria:

Serum

Frozen

Severely hemolyzed

Clotted blood       


Transport and Storage:
  • Ambient: 7 Days

    Transport

  • Refrigerated: 2 Weeks
  • Frozen (-20 C or colder): Unacceptable

Clinical Interpretation

Reference Range:

Refer to Interpretive Results


Methodology:
  • Polymerase chain reaction (PCR) followed by bidirectional sequencing of the coding regions of the gene and the intron / exon borders
Clinical Significance

Marfan syndrome is a connective tissue disorder with striking pleiotropism and clinical variability. Cardiac features are dilatation of the aortic root, aneurysm of the aorta and aortic dissection.  The cardiac symptoms often lead to premature death. Skeletal features are increased height, disproportionately long limbs, chest deformity, joint laxity, scoliosis and a narrow, highly arched palate with crowding of the teeth. Ocular features include myopia and ectopia lentis.
 
Classical Loeys-Dietz syndrome (LDS) is also an autosomal dominant aortic aneurysm syndrome. LDS is characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. The natural history of both conditions is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. The overlap of symptoms for these two conditions requires that a full analysis of Marfan syndrome must be extended to include reflexive analysis of theTGFBR1 and TGFBR2 genes.


Documentation

INDICATIONS FOR USE:
  • To confirm a clinical diagnosis and clarify therapeutic options.
  • To evaluate the inheritance risk of aortic dissection and death in a family with known history.
  • Symptomatic patients that did not have mutations in the FBN1 gene.
  • Prenatal diagnosis for Individuals at risk due to family history


Production Schedule

Sites Performed
  • Saint Francis Health System
Days Performed
Monday
Tuesday
Wednesday
Thursday
Friday
Departments
  • Sendouts - Genetics
Turn Around Time

4 weeks


Coding & Compliance

CDM

00913334


CPT Coding

81405