Cutis laxa is a genetically heterogeneous group of disorders that can be inherited in autosomal dominant or recessive manner.  Autosomal dominant cutis laxa is primarily characterized by loose, redundant skin without hyperelasticity. Aortic dilation, inguinal hernias, and pulmonary emphysema are other common findings.  Cardiac valve abnormalities, hoarse voice, and mild facial dysmorphism, including a beaked nose and long philtrum, have also been reported.

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Tests Available

By gene: ATP6V0A2
Next Generation Sequencing
Test Code: 1700
Deletion / Duplication
Test Code: 1701
NGS/Del Dup Comprehensive
Test Code: 1702

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair 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: 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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