Test Catalog

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ATP7B

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
  • 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
  • Cholestasis / Parenchymal liver damage
    Details

    TEST CODE

    		 189.01

    GENES TESTED

    		 64 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Hepatic and pancreatic diseases - entire panel
    Details

    TEST CODE

    		 192.01

    GENES TESTED

    		 80 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Wilson disease I ATP7B
    Details

    TEST CODE

    		 970.00

    GENES TESTED

    		 1 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Iron metabolism disorder, comprehensive analysis
    Details

    TEST CODE

    		 626.02

    GENES TESTED

    		 19 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Metabolism: Diabetes, lipid metabolism, iron/copper metabolism, adipositas
    Details

    TEST CODE

    		 733.00

    GENES TESTED

    		 42 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
  • Neuroacanthocytosis
    Details

    TEST CODE

    		 236.01

    GENES TESTED

    		 5 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
  • 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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