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
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Next Generation Sequencing
Test Code: 1936
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Deletion / Duplication
Test Code: 1937
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NGS/Del Dup Comprehensive
Test Code: 1938
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Related Panels
Test Details
Technical Information
Genes:
NOTCH1
Disease Groups:
Limb Hypoplasia - Reduction Defects
Skin, Tooth, Nail and Hair Disorders
Cardiovascular Disorders
MIM:
616028
Billing
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.