Number of Panel Genes:
7
Connective Tissue Gene Tests offers five panel options for osteogenesis imperfecta (OI) testing utilizing NextGen sequencing technology, an OI COL1A1 & COL1A2 panel, an OI core panel, a dominant OI panel, a recessive OI panel and a combined dominant and recessive OI panel. In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in theread more
Tests Available
7 Panel Genes: ALPL, ANO5, COL1A1, COL1A2, IFITM5, PLS3, P4HB
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Next Generation Sequencing
Test Code: 5097
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Deletion / Duplication
Test Code: 5098
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NGS/Del Dup Comprehensive
Test Code: 5099
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Test Details
Technical Information
Panel Genes:
ALPL, ANO5, COL1A1, COL1A2, IFITM5, PLS3, P4HB
Disease Groups:
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM:
166200
166210
259420
166220
610967
146300
112240
166260
Billing
CPT Codes:
81479 x 1
81408 x 1
81406 x 1
Ordering
SKU:
5097 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.
