Test Catalog

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ARSA

Clinical Area

Gene Panel Sequencing

  • Ataxia, comprehensive panel
    Details

    TEST CODE

    		 149.06

    GENES TESTED

    		 249 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
  • Hereditary spastic paraplegia /HSP
    Details

    TEST CODE

    		 148.03

    GENES TESTED

    		 117 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
  • 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
  • Leukodystrophy
    Details

    TEST CODE

    		 241.02

    GENES TESTED

    		 75 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Syndromal diseases - comprehensive panel
    Details

    TEST CODE

    		 161.06

    GENES TESTED

    		 641 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Intellectual Disability – treatable
    Details

    TEST CODE

    		 922.00

    GENES TESTED

    		 140 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks

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