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, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

List of diseases covered by the panel
Lab method: NGS panel NGS panel with CNV
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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Testing for at-risk family members
4. Genetic counseling

Ehlers-Danlos syndrome is a group of connective tissue disorders characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. These symptoms manifest at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, or early osteoarthritis.

The prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5000 individuals worldwide.

Ehlers-Danlos syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance, varying by the type of the disease.

References:

Anderson BE 2012. The Netter Collection of Medical Illustrations – Integumentary System E-Book Elsevier Health Sciences. p. 235. ISBN 978-1455726646. Archived from the original on 2017-11-05.
Lawrence EJ 2005. “The clinical presentation of Ehlers-Danlos syndrome”. Advances in Neonatal Care. 5 (6): 301–14. doi:10.1016/j.adnc.2005.09.006. PMID 16338669.
Malfait F et al 2007. Classic Ehlers-Danlos Syndrome. GeneReviews® Updated 2018 Jul 26.