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  • Test code: 02313
  • 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 Ehlers-Danlos Syndrome Panel

Test description

This test analyzes genes associated with Ehlers-Danlos syndrome (EDS) and other multi-system disorders that may present with features similar to EDS. Given the clinical overlap between EDS and related conditions, this panel enables a more efficient evaluation of multiple disorders based on a single indication.

For broad panel testing on connective tissue disorders, please refer to the Invitae Connective Tissue Disorders Panel under the Pediatric and Rare Disease clinical area. The Invitae Connective Tissue Disorders Panel cannot be combined with other Cardiology panels either at initial order or re-requisition at this time.

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Primary panel (17 genes)

ADAMTS2 ATP7A B3GALT6 B4GALT7 CHST14 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP FKBP14 FLNA P3H1 PLOD1 SLC39A13

Alternative tests to consider

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.

  • Ehlers-Danlos syndrome (EDS)
    • classic type (types I/II)
    • vascular type (type IV)
    • kyphoscoliotic form (type VI)
    • arthrochalasia type (types VIIA/B)
    • dermatosparaxis type (type VIIC)
    • cardiac valvular form
    • musculocontractural type 1
    • myopathic type
    • spondylodysplastic form
  • Osteogenesis imperfecta (OI)
  • Other related disorders

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

The classic, vascular and arthrochalasia types of EDS due to COL5A1, COL5A2, COL3A1, COL1A1, COL1A2 and COL12A1 are inherited in an autosomal dominant manner. Pathogenic COL1A2 and COL12A1 variants may also exhibit autosomal recessive inheritance. EDS or EDS-like clinical features due to ADAMTS2, FKBP14, PLOD1, and SLC39A13 are inherited in an autosomal recessive manner. B3GALT6-related and B4GALT7-related EDS are inherited in an autosomal recessive manner. CRTAP-related and P3H1-related osteogenesis imperfecta is are also inherited in an autosomal recessive manner. The ATP7A and FLNA genes are associated with X-linked conditions.

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
ADAMTS2 NM_014244.4
ATP7A NM_000052.6
B3GALT6 NM_080605.3
B4GALT7 NM_007255.2
CHST14 NM_130468.3
COL12A1 NM_004370.5
COL1A1 NM_000088.3
COL1A2 NM_000089.3
COL3A1* NM_000090.3
COL5A1 NM_000093.4
COL5A2 NM_000393.3
CRTAP NM_006371.4
FKBP14 NM_017946.3
FLNA NM_001456.3
P3H1 NM_022356.3
PLOD1 NM_000302.3
SLC39A13 NM_152264.4

COL3A1: Deletion/duplication analysis is not offered for exons 23-24.