Test Catalog

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DOK7

Clinical Area

Gene Panel Sequencing

  • Fetal akinesia / Arthrogryposis multiplex congenita (AMC)
    Details

    TEST CODE

    		 078.04

    GENES TESTED

    		 196 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Clinical Exome Single
    Details

    TEST CODE

    		 112.15A

    GENES TESTED

    		 5426 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Whole Exome Single
    Details

    TEST CODE

    		 165.09A

    GENES TESTED

    		 19179 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Brain malformations / Neuronal migration disorder - entire panel
    Details

    TEST CODE

    		 144.05

    GENES TESTED

    		 280 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Carrier Screening - Couple
    Details

    TEST CODE

    		 164.04B

    GENES TESTED

    		 604 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Carrier Screening plus
    Details

    TEST CODE

    		 1001.01

    GENES TESTED

    		 608 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Encephalopathies (mitochondrial/epileptic)
    Details

    TEST CODE

    		 265.02

    GENES TESTED

    		 462 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Congenital myasthenic syndrome (CMS)
    Details

    TEST CODE

    		 033.04

    GENES TESTED

    		 36 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Muscle weakness (myopathy, muscular dystrophy) - comprehensive panel
    Details

    TEST CODE

    		 089.09

    GENES TESTED

    		 240 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Muscle weakness, early-onset, Floppy Infant
    Details

    TEST CODE

    		 037.05

    GENES TESTED

    		 132 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Muscle weakness, adult-onset
    Details

    TEST CODE

    		 045.04

    GENES TESTED

    		 107 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • CPEO (Chronic progressive external ophthalmoplegia), nuclear genes and phenocopies
    Details

    TEST CODE

    		 255.00

    GENES TESTED

    		 35 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Z - Neuromuscular disorders - comprehensive Panel
    Details

    TEST CODE

    		 267.02

    GENES TESTED

    		 555 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Neuropathy/motor neuropathy comprehensive panel
    Details

    TEST CODE

    		 086.09

    GENES TESTED

    		 300 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks

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