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: NOTCH1
Next Generation Sequencing
$990
Test Code: 1936
Deletion / Duplication
$990
Test Code: 1937
NGS/Del Dup Comprehensive
$1,365
Test Code: 1938

Related Panels
Adams-Oliver syndrome NGS panel (6 genes)
NGS $1,290
Del Dup $990
Comp $2,130

Test Details

Technical Information
Genes: 
NOTCH1
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Skin, Tooth, Nail and Hair Disorders
Cardiovascular Disorders
MIM: 
616028
Billing
Price: 
$990
CPT Codes: 
81407 x 1
Ordering
SKU:
1936
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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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