Postaxial acrofacial dysostosis (POADS; MIM 263750) also known as Miller syndrome is an autosomal recessive disorder with craniofacial and postaxial limb deformities. Craniofacial findings include cleft lip and/or palate, micrognathia, coloboma of the eyelids, and cup-shaped ears. Postaxial limb deformities consist of aplasia of fifth digits of the hand and feet with or without ulnar and fibular hypoplasia.read more

Tests Available

By gene: DHODH
Sanger Sequencing
$750
Test Code: 2192
Deletion / Duplication
$680
Test Code: 2193
Sanger/Del Dup Comprehensive
$1,330
Test Code: 2194

Test Details

Technical Information
Genes: 
DHODH
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
Hearing Disorders
MIM: 
263750
Billing
Price: 
$750
CPT Codes: 
81479 x 1
Ordering
SKU:
2192
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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