List of diseases covered by Stickler Syndrome NGS panel

Published 31/07/2018

List of diseases covered by
Stickler Syndrome NGS panel

Gene Condition
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease; Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy
COL11A1 Stickler syndrome, type II; Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Stickler Syndrome NGS panel

Published 02/07/2015

Stickler Syndrome
NGS panel

Genes
(full coding
region):		 COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2

List of diseases covered by the panel
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
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. Carrier testing for at-risk family members
  3. Genetic counseling

Stickler syndrome is a group of hereditary conditions affecting connective tissue. Stickler syndrome is characterized by ocular findings, distinctive facial abnormalities, hearing loss, skeletal abnormalities, and joint problems.

Eye findings may include high myopia, cataract, vitreoretinal or chorioretinal degeneration, and retinal detachment. Hearing loss can be both conductive and sensorineural. Affected individuals have a characteristic flattened facial appearance caused by midfacial underdevelopment and cleft palate.

Stickler syndrome is inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome affects approximately 7,500 to 9,000 newborns.

References:

Annunen S et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 1999. Am J Hum Genet 65 (4): 974–83.
Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52.
Robin NH et al. Stickler Syndrome. GeneReviews® 2000 June 9 (Updated 2014 Nov 26)