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Disease Name: Congenital disorders of glycosylation

Genes Covered:

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT1, B4GALT1, B4GALT7, COG1, COG4, COG5, COG6, COG7, COG8, DAG1, DDOST, DOLK, DPAGT1, DPM1, DPM3, EXT1, EXT2, FKRP, FKTN, GALNT3, GNE, ISPD, LARGE1, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, RFT1, SEC23B, SLC35A1, SLC35C1, SLC35D1, SRD5A3, ST3GAL5, TMEM165, TUSC3
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Congenital disorders of glycosylation

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