Test Catalog

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NSD1

Clinical Area

Gene Panel Sequencing

  • Syndrome with intellectual disability and behavioral abnormalities/ autism spectrum disorders - Epigenetic signature
    Details

    TEST CODE

    		 1023.01

    GENES TESTED

    		 46 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Syndromes with macrocephaly, macrosomia, adipositas and developmental delay - Epigenetic signature
    Details

    TEST CODE

    		 1027.00

    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
  • 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
  • Heart diseases - entire panel
    Details

    TEST CODE

    		 186.05

    GENES TESTED

    		 197 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Congenital heart disease, entire panel
    Details

    TEST CODE

    		 185.02

    GENES TESTED

    		 50 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Cardiomyopathies - entire panel
    Details

    TEST CODE

    		 088.06

    GENES TESTED

    		 169 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
  • Macrocephaly
    Details

    TEST CODE

    		 156.03

    GENES TESTED

    		 45 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Sotos syndrome and related overgrowth syndromes
    Details

    TEST CODE

    		 291.00

    GENES TESTED

    		 5 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks

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