Number of Panel Genes:
3
Auriculocondylar syndrome is a craniofacial disorder involving the first and second pharyngeal arches. It is characterized by mandibular anomalies, including mandibular hypoplasia, temporomandibular joint ankylosis, micronathia and retrognathia, cleft palate, and distinctive, question mark ear malformations. Additional findings may include prominent cheeks, microstomia, and glossoptosis.
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Tests Available
3 Panel Genes: EDN1, GNAI3, PLCB4
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Next Generation Sequencing
Test Code: 5352
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Deletion / Duplication
Test Code: 5353
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NGS/Del Dup Comprehensive
Test Code: 5354
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Test Details
Technical Information
Panel Genes:
EDN1, GNAI3, PLCB4
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
5352 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.