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Disease Name: Aceruloplasminemia

Genes Covered:

HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE2, KCNA1, SLC12A3, SLC30A10, SLC39A4, SLC40A1, TFR2, TRPM6
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders in the metabolism of trace elements and metals

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request