Number of Panel Genes:
14
Connective Tissue Gene Tests Dense bone dysplasia NextGen sequencing panel consists of fourteen genes associated with dense bone dysplasias.
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14 Panel Genes: ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
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Next Generation Sequencing
Test Code: 5088
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Deletion / Duplication
Test Code: 5089
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NGS/Del Dup Comprehensive
Test Code: 5090
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Test Details
Technical Information
Panel Genes:
ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Disease Groups:
Osteopetrosis and High Bone Density Disorders
MIM:
123000
114000
218400
259100
112250
151050
614441
122860
269500
239100
231095
131300
239000
221770
Billing
CPT Codes:
81479 x 1
81408 x 1
Ordering
SKU:
5088 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.
