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: RBPJ
Next Generation Sequencing
$990
Test Code: 1452
Deletion / Duplication
$680
Test Code: 1453
RBPJ Del/Dup test includes exons 4 to 14 only
NGS/Del Dup Comprehensive
$1,570
Test Code: 1454
RBPJ Del/Dup test includes exons 4 to 14 only

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

Test Details

Technical Information
Genes: 
RBPJ
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Skin, Tooth, Nail and Hair Disorders
Cardiovascular Disorders
MIM: 
614814
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1452
Turnaround Time: 
Typically 3 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: 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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