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Disease Name: Pentosuria

Genes Covered:

AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders of carbohydrate 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