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
$1,475
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
Price: 
$1,100
CPT Codes: 
81479 x 5
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. 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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search