Cutis laxa is caused by a defect or deficiency of the connective tissue, the skin symptoms are often also observed in conjunction with problems involving the respiratory, skeletal, intestinal, and cardiovascular systems. The involvement of which, if any, additional body systems depends on the type of CL and/or the genetic cause.
| Genes | ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP2(FBLN4), ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10 |
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| Lab method | NGS Sequencing |
| Turnaround time | 3 months |
| Location | Location VU |
| Price | € 1.115,00 |