Ordering Recommendation

Confirm clinical diagnosis of Loeys-Dietz syndrome.

Mnemonic

LDS FGS

Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

14-21 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

Interpretive Data

Background Information for Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing:
Characteristics of Loeys-Dietz Syndrome (LDS)
: Vascular-thoracic findings (thoracic, cerebral and abdominal arterial aneurysms and/or dissections), skeletal abnormalities (scoliosis, arachnodactyly, talipes equinovarus, joint laxity, pectus excavatum and carinatum), unusual craniofacial features (hypertelorism, craniosynostosis and cleft palate/bifid uvula) and cutaneous findings (translucent velvety skin, widened poorly-formed scars and easy bruising).
Incidence: Unknown, but rare, and seen in all ethnicities. 
Inheritance: Autosomal dominant; 75 percent of mutations are de novo.
Penetrance: 99 percent.  
Cause:
Pathogenic TGFBR1 and TGFBR2 gene mutations.
Clinical Sensitivity: 95 percent.
Methodology:
Bidirectional sequencing of the TGFBR1 and TGFBR2 genes coding regions and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81405

Components

Component Test Code* Component Chart Name LOINC
2002706 LDS FGS Specimen
2002707 Loeys-Dietz Syndrome Sequencing
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • LDS sequencing assay
  • TGBR1, TGBR2 sequencing assay
Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing