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          Home / Clinical areas / Cardiology / Aortic, vascular, and connective tissue diseases

          Ehlers-Danlos Syndromes Panel [35 genes]

          We have added a new panel for Ehlers-Danlos syndromes (35-gene panel) into our portfolio of massive sequencing (NGS) genetic testing services.

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

          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.

          • Other diagnostic pathologies

          • 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.

          Request study Informed consent
          Steps to follow
          Steps to follow

          How to order

          1. Download & fill out

          Please cover as many fields as possible in both documents

          2. Sample collection

          Three sample types: saliva, peripheral blood or genomic DNA

          3. Pack the sample

          Please pack the sample in a way to prevent leakage

          4. Send the sample & the request

          Please schedule the delivery for Mon–Thur: 8am – 5pm

          5. Result: the report

          Via: Client Site HIC / Client Site Imegen / Certified email

          Ask for information
          Solicita información de

          Ehlers-Danlos Syndromes Panel


          • *

          Turnaround time (TAT): 5 weeks

          Ref. S-201906569

          Ehlers-Danlos Syndromes Panel: View panel
          Clinical forms or subtypesPriority genesSecondary genes
          Classical subtypeCOL5A1, COL5A2, COL1A1
          Classical-like subtype 1TNXB
          Vascular subtypeCOL3A1 (principal), COL1A1, COL5A1
          Cardiac-valvular subtypeCOL1A2
          Arthrochalasia subtypeCOL1A1, COL1A2
          Kyphoscoliotic subtypePLOD1, FKBP14
          Dermatosparaxis subtypeADAMTS2
          Spondylodysplastic subtypeB3GALT6, B4GALT7, SLC39A13
          Musculocontractural subtypeCHST14, DSE
          Myopathic subtypeCOL12A1
          Brittle cornea syndromePRDM5, ZNF469
          Periodontal subtypeC1R, C1S
          Classical-like subtype 2AEBP1
          Filamin A-related Ehlers Danlos phenotypeFLNA
          14 secondary genes related to connective tissue and vascular syndromesATP7A, BGN, FBN1, FBN2, ELN, SKI, TGFB2, TGFB3,
          TGFBR1, TGFBR2, SMAD3, EFEMP2, LOX, SLC2A10

          Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
          Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
          * Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

          Related panels
          Aortic, Vascular, and Connective Tissue Disorders Panel [64 genes]

          Panel that include Ehlers-Danlos syndromes genes

          Cardiovascular Diseases General Panel [405 genes]

          Panel that include Ehlers-Danlos syndromes genes

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