Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, broad nasal tip and root, bifid nose and oral, palatal and facial clefting. Additional findings include microphthalmia, coloboma, and low-set, posteriorly rotated ears.read more
Tests Available
By gene: SIX2
Sanger Sequencing
$495
Test Code: 2357
|
Deletion / Duplication
$900
Test Code: 2358
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 2359
|
Test Details
Technical Information
Genes:
SIX2
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Billing
Price:
$495
CPT Codes:
81479 x 1
Ordering
SKU:
2357 Turnaround Time:
Typically 1 to 2 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.