Number of Panel Genes: 
8

Connective Tissue Gene Tests Stickler syndrome NextGen sequencing panel includes eight genes associated with Stickler syndrome and related disorders: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3 and VCAN. The panel includes both autosomal dominant and autosomal recessive forms of Stickler syndrome.

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Tests Available

8 Panel Genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, VCAN
Next Generation Sequencing
$1,100
Test Code: 5127
Deletion / Duplication
$990
Test Code: 5128
NGS/Del Dup Comprehensive
$1,250
Test Code: 5129

Test Details

Technical Information
Panel Genes: 
COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, VCAN
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Eye Disorders
Skeletal Dysplasias
Hearing Disorders
MIM: 
108300
609508
604841
154780
184840
614134
143200
614284
Billing
Price: 
$1,100
CPT Codes: 
81479 x 8
Ordering
SKU:
5127
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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