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Disease Name: PEPCK deficiency, mitochondrial

Genes Covered:

AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27B1, DECR1, DIABLO, DMGDH, DNAJC19, DNM1L, EPHX2, ETHE1, HARS2, HAX1, HK1, HMGCS2, HOGA1, HSD3B2, HSPD1, IDH2, IDH3B, KARS, KIF1B, LARS2, MFF, MFN2, MSRB3, MTPAP, OPA3, PCK2, REEP1, SARS2, SLC9A6, SPG7, STAR, TAZ, TMEM126A, XPNPEP3
Test Details Pricing

Panel: Strand Mitochondrial Disorders Test

Disorder Category: Other mitochondrial disorders

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

Special Remarks: This test includes only nuclear genes encoding for the mitochondrial proteins that are important for normal mitochondrial function. This panel does not cover genes present in the mitochondrial genome.

On request