Ehlers-Danlos Syndrome NGS panel
| Genes (full coding region): |
ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis of Ehlers-Danlos syndrome types and other genetically/phenotypically related disorders
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling
Ehlers-Danlos syndrome (EDS) is a group of rare disorders affecting connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The 2017 classification describes 13 types of EDS. The symptoms depend upon the specific type of EDS. An unusually large range of joint movement occurs in most forms of EDS and many individuals with the EDS have soft, velvety skin that is highly stretchy (elastic) and fragile. The vascular type of disease causes bleeding problems, the cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart, and people with the kyphoscoliotic type experience severe curvature of the spine.
The test covers the known genetic causes of EDS types and a range of other genetically/phenotypically related disorders.
Depending on the type of EDS it could be inherited in an autosomal dominant or autosomal recessive pattern.
The combined prevalence of all types of EDS is estimated to affect 1 in 2500 to 5000 individuals in the general population. Most common are hypermobile and classical forms affecting 1 in 5,000 to 20,000 people and 1 in 20,000 to 40,000 people, respectively. Other forms of EDS are extremely rare.
References:
Byers PH. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [Updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1494/
Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. 2004 Oct 22 [updated 2016 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1279/
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552. PMID: 28306229
Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. 2007 May 29 [updated 2011 Aug 18]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1244/
Pepin MG, Murray ML, Byers PH. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1494/
Cannaerts E, Kempers M, Maugeri A, et al. Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. J Med Genet. 2019;56(4):220-227. doi:10.1136/jmedgenet-2018-105304. PMID: 29967133