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: ELN
Next Generation Sequencing
$990
Test Code: 1515
Deletion / Duplication
$990
Test Code: 1516
NGS/Del Dup Comprehensive
$1,365
Test Code: 1517

Test Details

Technical Information
Genes: 
ELN
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
123700
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1515
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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