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  • Test code: 02311
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Loeys-Dietz Syndrome Panel

Test description

This test is for individuals with a clinical diagnosis or features of Loeys-Dietz syndrome (LDS). The primary panel includes genes associated with LDS and conditions with similar clinical features.

Individuals presenting with features of a connective tissue condition with vascular involvement may benefit from genetic testing to confirm diagnosis, clarify risks, or inform management. Confirming a diagnosis of LDS is particularly important because some individuals with LDS are at risk for aortic dissections at smaller aortic dimensions than individuals with other forms of connective tissue disorders, and for having aneurysms or dissections in other arteries beyond the aorta.

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Primary panel (7 genes)

FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

Alternative tests to consider

The clinical features of Loeys-Dietz syndrome (LDS) can overlap with other inherited aortopathies, including thoracic aortic aneurysms and dissections. Genes associated with LDS are also included as part of a targeted panel to test for aortopathy disorders, called the Invitae Aortopathy Comprehensive Panel. Depending on the individual’s clinical and family history, the Invitae Aortopathy Comprehensive Panel may be appropriate. This panel can be ordered at no additional charge.

There can be significant overlap between connective tissue disorders. Connective tissue disorders are often multi-systemic, involving the bones, joints, blood vessels, skin, eyes, and other organs. The Invitae Connective Tissue Disorders Panel analyzes genes that are associated with inherited disorders of connective tissue, including but not limited to Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, thoracic aortic aneurysm and dissection, cutis laxa, Stickler syndrome, fibrodysplasia ossificans progressiva, and osteogenesis imperfecta. The Invitae Connective Tissue Disorders Panel cannot be combined with other Cardiology panels either at initial order or re-requisition at this time.

  • Loeys-Dietz syndrome (LDS)
  • Marfan syndrome and other FBN1-related conditions
  • Thoracic aortic aneurysms and aortic dissections (TAAD)

To view the complete clinical description of this panel, click here.

LDS is an autosomal dominant condition. Approximately 75% of individuals with LDS have a de novo pathogenic variant that is not inherited from either parent.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
FBN1 NM_000138.4
SMAD2 NM_005901.5
SMAD3 NM_005902.3
TGFB2 NM_003238.3
TGFB3 NM_003239.3
TGFBR1 NM_004612.2
TGFBR2 NM_003242.5