Ehlers-Danlos

Ehlers-Danlos Syndromes panel [35 genes]: this panel includes the 21 priority genes associated with the different subtypes of these syndromes described to date.

Additionally, it includes 14 genes related to aortic diseases and other connective tissue diseases that predispose to dilatation and/or rupture of the aorta and other arteries.

This study allows analyzing point variants as well as larger ones, such as large duplications and deletions (copy-number variations, CNVs) that can be causative of the studied disease and whose analysis is not possible by conventional studies or would require additional molecular studies.

Study requisition form
Informed consent
ADAMTS2AEBP1B3GALT6B4GALT7C1RC1SCHST14COL12A1COL1A1COL1A2
COL3A1COL5A1COL5A2DSEFKBP14FLNAPLOD1PRDM5SLC39A13TNXB
ZNF469ATP7ABGNEFEMP2ELNFBN1FBN2LOXSKISLC2A10
SMAD3TGFB2TGFB3TGFBR1TGFBR2

Cardiovascular diseases global panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

This panel includes the 21 priority genes associated with the different subtypes of these syndromes described to date.

Additionally, it includes 14 genes related to aortic diseases and other connective tissue diseases that predispose to dilatation and/or rupture of the aorta and other arteries.

This study allows analyzing point variants as well as larger ones, such as large duplications and deletions (copy-number variations, CNVs) that can be causative of the studied disease and whose analysis is not possible by conventional studies or would require additional molecular studies.

Study requisition form
Informed consent
ADAMTS2AEBP1B3GALT6B4GALT7
C1RC1SCHST14COL12A1
COL1A1COL1A2COL3A1COL5A1
COL5A2DSEFKBP14FLNA
PLOD1PRDM5SLC39A13TNXB
ZNF469ATP7ABGNEFEMP2
ELNFBN1FBN2LOX
SKISLC2A10SMAD3TGFB2
TGFB3TGFBR1TGFBR2

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.
  • Genes considered secondary within the Ehlers-Danlos syndrome panel are those involved in other connective tissue diseases that predispose to the development of vascular dilatation and/or rupture events.
  • Among the relevant pathologies for the differential diagnosis of Ehlers-Danlos syndromes are connective tissue diseases and aortopathies (such as Marfan, Loeys-Dietz, Shprintzen-Goldberg, and arterial tortuosity syndromes, among others), cutis laxa syndromes (type 1B, associated with defects in the EFEMP2 gene), and syndromes associated with genetic defects in the FLNA and ATP7A genes.
  • Subjects under suspicion or clinical diagnosis of familial thoracic aortic aneurysms and dissections, whether in their syndromic (i.e. associated with a set of clinical characteristics including vascular involvement, as is the case of Marfan syndrome) or non-syndromic forms (when vascular involvement occurs in isolation).
  • Familial study: A search for the mutation previously identified in a proband (relatives of patients with syndromic or non-syndromic familial thoracic aortic aneurysms in which a mutation has been previously identified).

Vascular Ehlers-Danlos syndrome: The genetic testing can identify a pathogenic mutation in the COL3A1 gene (in 95% of all clinically diagnosed cases).

Other Ehlers-Danlos syndrome types: classic type [COL5A1 (mutations in this gene are identified in 46% of patients with a clear diagnosis of classic EDS), COL5A2 (mutations in this gene are identified in 4% of patients with a clear diagnosis of classic EDS)], kyphoscoliosis type [PLOD1 is the only gene described for this pathology], arthrochalasia type [COL1A1 and COL1A2 (skipping and deletion mutations in these 2 genes have been identified in cases with a clear diagnosis of this type of EDS)] and EDS variant with periventricular heterotopia (mutations in FLNA have been described in this case).

  • 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Hiratzka LF et al. Circulation. 2010 Apr 6; 121(13):e266-369
  • Medical management of aortic disease in children with Marfan syndrome. Curr Opin Pediatr. 2018 Oct
  • Genetic Disorders of the Thoracic Aorta and Indications for Surgery. Cardiol Clin. 2017 Aug
  • Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014 Feb 27
  • The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 March 17
  • The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet. 2015 Feb
  • TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. Int J Mol Sci. 2018 Jul 21
  • Management and Outcomes of Aortic Dissection in Pregnancy with Marfan syndrome: A Systematic Review. Curr Vasc Pharmacol. 2019 Apr 8

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