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: ALX1
Sanger Sequencing
$495
Test Code: 1927
Deletion / Duplication
$680
Test Code: 1928
Sanger/Del Dup Comprehensive
$1,075
Test Code: 1929

Related Panels

Test Details

Technical Information
Genes: 
ALX1
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Eye Disorders
MIM: 
613456
Billing
Price: 
$495
CPT Codes: 
81479 x 1
Ordering
SKU:
1927
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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