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.

  • 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.

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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

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Ehlers-Danlos Syndromes Panel

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Turnaround time (TAT): 4 weeks

Ref. S-201906569

Ehlers-Danlos Syndromes Panel: View panel
Clinical forms or subtypes Priority genes Secondary genes
Classical subtype COL5A1, COL5A2, COL1A1
Classical-like subtype 1 TNXB
Vascular subtype COL3A1 (principal), COL1A1, COL5A1
Cardiac-valvular subtype COL1A2
Arthrochalasia subtype COL1A1, COL1A2
Kyphoscoliotic subtype PLOD1, FKBP14
Dermatosparaxis subtype ADAMTS2
Spondylodysplastic subtype B3GALT6, B4GALT7, SLC39A13
Musculocontractural subtype CHST14, DSE
Myopathic subtype COL12A1
Brittle cornea syndrome PRDM5, ZNF469
Periodontal subtype C1R, C1S
Classical-like subtype 2 AEBP1
Filamin A-related Ehlers Danlos phenotype FLNA
14 secondary genes related to connective tissue and vascular syndromes ATP7A, 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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