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 mouth.read more

Tests Available

By gene: ZSWIM6
Sanger Sequencing
$1,270
Test Code: 2006
Deletion / Duplication
$680
Test Code: 2007
Sanger/Del Dup Comprehensive
$1,850
Test Code: 2008

Test Details

Technical Information
Genes: 
ZSWIM6
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
MIM: 
603671
Billing
Price: 
$1,270
CPT Codes: 
81479 x 1
Ordering
SKU:
2006
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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