AGDx NGS – Vascular malformations panel plus CNV

Test code: D00482
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Clear

Quality A: all 21 genes 100% coverage.

SKU

D00483

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 & Del/Dup Analysis

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)