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 asymmetrical.read more

Tests Available

By gene: DLL4
Sanger Sequencing
$870
Test Code: 2352
Deletion / Duplication
$680
Test Code: 2353
Sanger/Del Dup Comprehensive
$1,450
Test Code: 2354

Test Details

Technical Information
Genes: 
DLL4
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Cardiovascular Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$870
CPT Codes: 
81479 x 1
Ordering
SKU:
2352
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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