Number of Panel Genes:
7
Connective Tissue Gene Tests Stickler syndrome NextGen sequencing panel includes seven genes associated with Stickler syndrome and related disorders. The panel includes both autosomal dominant and autosomal recessive forms of Stickler syndrome.
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7 Panel Genes: COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, VCAN
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Next Generation Sequencing
$1,220
Test Code: 5127
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Deletion / Duplication
$990
Test Code: 5128
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NGS/Del Dup Comprehensive
$1,595
Test Code: 5129
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Test Details
Technical Information
Panel Genes:
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, VCAN
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Eye Disorders
Skeletal Dysplasias
Hearing Disorders
MIM:
108300
609508
604841
154780
184840
614134
143200
614284
Billing
Price:
$1,220
CPT Codes:
81479 x 7
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 4 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
- 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.
Related Tests
| Disorder |
Gene |
|
|---|---|---|
| Fibrochondrogenesis 1 | COL11A1 | |
| Stickler syndrome, type II | COL11A1 | |
| Marshall syndrome | COL11A1 | |
| Fibrochondrogenesis 2 | COL11A2 | |
| Otospondylomegaepiphyseal dysplasia | COL11A2 | |
| Weissenbacher-Zweymuller syndrome | COL11A2 | |
| Stickler syndrome, type III | COL11A2 | |
| Spondyloperipheral dysplasia | COL2A1 | |
| Achondrogenesis, type II / Hypochondrogenesis | COL2A1 | |
| Avascular necrosis of femoral head, primary | COL2A1 | |
| Kniest dysplasia | COL2A1 | |
| Osteoarthritis with mild chondrodysplasia | COL2A1 | |
| Platyspondylic lethal skeletal dysplasia, Torrance type | COL2A1 | |
| Stickler syndrome, type I | COL2A1 | |
| Spondyloepimetaphyseal dysplasia, Strudwick type | COL2A1 | |
| Spondyloepiphyseal dysplasia congenita | COL2A1 |