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Test Code Stick UM Stickler Syndrome Sequencing Panel

Important Note

This panel includes 9 genes: COLL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, LRP2, and VCAN

This will detect Stickler I, II and III.

Clinical System Name

Stickler Syndrome Sequencing Panel


Stickler Syndrome Sequencing Panel








Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 2 mL


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg of DNA at a concentration of at least 20 µg/ml

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Place whole blood in CPA refrigerator send-outs rack. Store extra labels in the clear plastic box attached to CPA refrigerator.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely



N 3-4 w (Max 45 d)


Performing Laboratory



Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484


Reference Range

Interpretive report is provided.


Method: NextGen Sequencing

Analytical Volume:


CPT Codes

81479 (Updated 7/18/2016 by sstasi)

Special Instructions

Links to:




Sample details, PreventionGenetics 

Clinical Utility

This panel is appropriate to confirm a diagnosis for patients who have clinical features consistent with Stickler syndrome. At present, no consensus minimal clinical diagnostic criteria exist and other skeletal dysplasia disorders can have overlapping clinical features with Stickler syndrome.


Causative variants in COL2A1 and COL11A1 account for 80-90% and 10-20% of variants identified in autosomal dominant STL syndrome, respectively; causative variants in COL11A2 account for rare dominant cases. Causative variants in COL9A1, COL9A2, COL9A3, LOXL3 and LRP2 have been found only in a few families affected with autosomal recessive inheritance of STL syndrome (Robin et al. 2011; Schrauwen et al. 2014; Alzahrani et al. 2015). Causative variants in the VCAN gene were identified in ten out of twelve families diagnosed with autosomal dominant VCAN-related vitreoretinopathy (Kloeckener-Gruissem and Amstutz 2016).

In addition to STL, causative variants in these genes also cause other skeletal dysplasia disorders. These skeletal disorders have overlapping clinical features with Stickler syndrome, which cause difficulties in reaching a correct clinical diagnosis. Molecular diagnosis of the skeletal dysplasia subtypes is also complex because extensive genetic heterogeneity exists for each disorder (Warman et al. 2011). Considering the clinical and genetic heterogeneity, a molecular testing approach that interrogates all known Stickler syndrome genes is highly recommended. See individual gene test descriptions for information on molecular biology of gene products.


GeneReviews:  Stickler syndrome

Send Out Instructions

Reference Test Name: Stickler Syndrome NextGen Sequencing (NGS) Panel
Reference Test Number: 1319
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery