AGDx NGS – Cutis laxa panel v3.0

Test code: V00067
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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

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Cutis laxa - autosomal dominant (OMIM: 123700)
  • Cutis laxa - autosomal recessive - type IIB (OMIM: 612940)
  • Cutis laxa autosomal recessive - Cutis laxa type IB (OMIM: 614437)