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: PYCR1
Sanger Sequencing
$670
Test Code: 1703
Deletion / Duplication
$680
Test Code: 1704
Sanger/Del Dup Comprehensive
$1,250
Test Code: 1705

Related Panels
Cutis laxa NGS panel (7 genes)
NGS $1,290
Del Dup $990
Comp $2,130

Test Details

Technical Information
Genes: 
PYCR1
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
612940
Billing
Price: 
$670
CPT Codes: 
81479 x 1
Ordering
SKU:
1703
Turnaround Time: 
Typically 1 to 2 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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