Acromelic frontonasal dysostosis (AFND; MIM 603671) is a rare autosomal dominant disorder with distinct craniofacial, central nervous system and limb malformations. Typical craniofacial findings include severe frontonasal malformation with median facial cleft, marked separation of the nares, significant hypertelorism, and a carp shaped more

Tests Available

By gene: ZSWIM6
Next Generation Sequencing
Test Code: 2006
Deletion / Duplication
Test Code: 2007
NGS/Del Dup Comprehensive
Test Code: 2008

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
CPT Codes: 
81479 x 1
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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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