Test Catalog

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COL4A2

Clinical Area

Gene Panel Sequencing

  • Cataract
    Details

    TEST CODE

    		 120.02

    GENES TESTED

    		 69 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Cleavage syndromes, Axenfeld-Rieger syndrome
    Details

    TEST CODE

    		 121.03

    GENES TESTED

    		 20 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
  • Leukencephalopathy, adult
    Details

    TEST CODE

    		 642.01

    GENES TESTED

    		 17 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
  • Vascular and connective tissue diseases - entire panel
    Details

    TEST CODE

    		 175.07

    GENES TESTED

    		 182 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Early-onset Stroke / Stroke-Like Episodes
    Details

    TEST CODE

    		 128.02

    GENES TESTED

    		 23 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Collagen Type IV-Associated Disorders and Phenocopies
    Details

    TEST CODE

    		 129.01

    GENES TESTED

    		 5 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
  • Dysgyria (lissencephaly, pachygyria, polymicrogyria)
    Details

    TEST CODE

    		 136.03

    GENES TESTED

    		 34 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

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