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.

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