Number of Panel Genes:
5
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. FND1, FND2, FND3 and SIX2 related FND are caused by mutations in the ALX3, ALX4, ALX1 and SIX2 genes.read more
Tests Available
5 Panel Genes: ALX3, ALX4, ALX1, EFNB1, SIX2
Next Generation Sequencing
$1,100
Test Code: 1918
|
Deletion / Duplication
$990
Test Code: 1919
|
NGS/Del Dup Comprehensive
$1,300
Test Code: 1920
|
Test Details
Technical Information
Panel Genes:
ALX3, ALX4, ALX1, EFNB1, SIX2
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Eye Disorders
MIM:
136760
613451
613456
304110
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1918 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.