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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8 Panel Genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, VCAN
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Next Generation Sequencing
$1,100
Test Code: 5127
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Deletion / Duplication
$990
Test Code: 5128
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NGS/Del Dup Comprehensive
$1,250
Test Code: 5129
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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
CPT Codes:
81479 x 1
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: 2 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: 2 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 |
|
|---|---|---|
| Stickler syndrome, type II | COL11A1 | |
| Marshall syndrome | COL11A1 | |
| Fibrochondrogenesis 1 | COL11A1 | |
| Fibrochondrogenesis 2 | COL11A2 | |
| Otospondylomegaepiphyseal dysplasia | COL11A2 | |
| Weissenbacher-Zweymuller syndrome | COL11A2 | |
| Stickler syndrome, type III | COL11A2 | |
| Kniest dysplasia | COL2A1 | |
| Osteoarthritis with mild chondrodysplasia | COL2A1 | |
| Stickler syndrome, type I | COL2A1 | |
| Platyspondylic lethal skeletal dysplasia, Torrance type | COL2A1 | |
| Spondyloepimetaphyseal dysplasia, Strudwick type | COL2A1 | |
| Spondyloepiphyseal dysplasia congenita | COL2A1 | |
| Spondyloperipheral dysplasia | COL2A1 | |
| Achondrogenesis, type II / Hypochondrogenesis | COL2A1 | |
| Avascular necrosis of femoral head, primary | COL2A1 |