Test Catalog

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COL6A3

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
  • Movement disorders - comprehensive panel
    Details

    TEST CODE

    		 233.06

    GENES TESTED

    		 369 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Dystonia, dyskinesia - comprehensive panel
    Details

    TEST CODE

    		 231.02

    GENES TESTED

    		 56 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
  • 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
  • Muscular dystrophy, congenital, collagen-associated (Bethlem/Ullrich and phenocopies)
    Details

    TEST CODE

    		 032.01

    GENES TESTED

    		 7 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Muscular dystrophy, congenital, entire panel
    Details

    TEST CODE

    		 251.00

    GENES TESTED

    		 29 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Myalgia, muscle cramps
    Details

    TEST CODE

    		 975.01

    GENES TESTED

    		 10 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
  • Muscle disease with contractures and/or rigid spine
    Details

    TEST CODE

    		 043.01

    GENES TESTED

    		 26 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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