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Test Code StickDDUM Stickler Syndrome Deletion/Duplication

Important Note

This panel includes deletion/duplication analysis of 7 genes: COL2A1, COL11A2, COL11A, COL9A1, COL9A2, COL9A3, VCAN

Clinical System Name

Stickler Syndrome Deletion/Duplication









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 or EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  1 µg of purified DNA at a concentration of at least 100 µg/ml


Note: Send blood promptly to Lab for processing.

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 2 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 30 d)


Performing Laboratory



Department:  PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number: (715) 387-0484


Reference Range

Interpretive report is provided.


Method: Array Comparative Genome Hybridization

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.


GeneReviews:  Stickler syndrome

Send Out Instructions

Reference Test Name: Stickler Syndrome Deletion/Duplication Testing Via Array Comparative Genomic Hybridization
Reference Test Number: 600
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery