AGDx NGS – Vascular malformations panel

Test code: D00444
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Clear

Quality A: all 21 genes 100% coverage. For a maximized diagnostic yield we recommend the Vascular malformations panel plus CNV

Genes

ACVRL1, ANTXR1, BMPR2, CAV1, CCM2, DOCK6, ENG, GDF2, GLMN, GNAQ, KCNK3, KDR, KRIT1, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1, SMAD4, SOX18, TEK

Lab method

NGS Sequencing

Turnaround time

4 months

Price  1.095,00

Disorders:

  • Cowden Syndrome (OMIM: 158350)
  • Capillary Infantile Hemangioma (OMIM: 602089)
  • Capillary malformation arteriovenous malformation - CMAVM (OMIM: 608354)
  • Cerebral cavernous malformations 3 (OMIM: 603285)
  • Cerebral cavernous malformations-1 (OMIM: 116860)
  • Cerebral cavernous malformations-2 (OMIM: 603284)
  • Cowden Syndrome (OMIM: 158350)
  • Glomuvenous malformations (OMIM: 138000)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (OMIM: 607823)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (OMIM: 175050)
  • Pulmonary hypertension - primary (OMIM: 178600)
  • Pulmonary hypertension - primary - 3 (OMIM: 615343)
  • Pulmonary hypertension - primary - 4 (OMIM: 615344)
  • Telangiectasia - hereditary hemorrhagic - type 1 (OMIM: 187300)
  • Telangiectasia - hereditary hemorrhagic - type 2 (OMIM: 600376)
  • Telangiectasia - hereditary hemorrhagic - type 5 (OMIM: 615506)
  • Venous malformations (OMIM: 600195)
  • Venous malformations - multiple cutaneous and mucosal (OMIM: 600195)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (OMIM: 607823)
  • Venous malformations (OMIM: 600195)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (OMIM: 607823)