Adams-Oliver syndrome (AOS) is characterized by terminal limb defects and congenital absence of skin on the scalp (aplasia cutis congenita). The limb defects most often affect the distal phalanges but more proximal defects have been observed. Defects include brachydactyly, syndactyly, hypoplastic fingers and toes, or even complete absence of fingers and toes. The limb defects may be more

Tests Available

By gene: ARHGAP31
Next Generation Sequencing
Test Code: 1013
Deletion / Duplication
Test Code: 1014
NGS/Del Dup Comprehensive
Test Code: 1448

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Test Details

Technical Information
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Skin, Tooth, Nail and Hair Disorders
Cardiovascular 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: 2 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: 2 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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