AGDx NGS – Dyslipidemia panel plus CNV

Test code: D00471
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Clear

Whole panel Quality A = coverage of 100% (at least >30x). For CNV analysis whole blood sample is required. For other types of samples order AGDx NGS – Dyslipidemia panel.

Genes

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP (IDOL), PCSK9, SAR1B, SCARB1, SLCO1B1
Lab method

NGS Sequencing & Del/Dup Analysis
Turnaround time

3 months
Location

Location AMC
Price € 590,00

Disorder(s)

  • Cardio Vascular Disorders
  • Lipid metabolism disorders
  • Abetalipoproteinemia (OMIM: 200100)
  • Cerebrotendinous xanthomatosis (OMIM: 213700)
  • Chylomicron retention disease (OMIM: 246700)
  • Dysbetalipoproteinemia (OMIM: 617347)
  • Familial Hypercholesterolemia - FH (OMIM: 143890)
  • Hyperalphalipoproteinemia (OMIM: 143470)
  • Hypercholesterolemia due to ligand-defective apo B (OMIM: 144010)
  • Hypertriglyceridemia (OMIM: 145750)
  • Hypoalphalipoproteinemia (OMIM: 604091)
  • Hypobetalipoproteinemia (OMIM: 615558)
  • Metabolic Disorders
  • Lipid metabolism disorders
  • Cerebrotendinous xanthomatosis (OMIM: 213700)
  • Chylomicron retention disease (OMIM: 246700)
  • Hyperalphalipoproteinemia (OMIM: 143470)
  • Hypertriglyceridemia (OMIM: 145750)
  • Hypoalphalipoproteinemia (OMIM: 604091)
  • Hypobetalipoproteinemia (OMIM: 615558)