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Disease Name: Porphyria

Genes Covered:

ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GATA1, HAMP, HBB, HBD, HBG1, HBG2, HFE, HFE2, HMBS, HMOX1, HSPA9, PPOX, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SLC25A38, SLC40A1, SLC4A1, SPTA1, SPTB, TFR2, TMPRSS6, UROD, UROS
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders of porphyrin and heme metabolism

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