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Disease Name: Abetalipoproteinaemia

Genes Covered:

ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders of lipid and lipoprotein 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