Test Catalog

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KMT2D

Clinical Area

Gene Panel Sequencing

  • Hereditary Cancer Syndromes - Comprehensive Panel
    Details

    TEST CODE

    		 093.05

    GENES TESTED

    		 176 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Syndromes with multiple congenital anomalies (with or without ID) - Epigenetic signature
    Details

    TEST CODE

    		 1019.00

    GENES TESTED

    		 16 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Syndromes with short stature - Epigenetic signature
    Details

    TEST CODE

    		 1024.01

    GENES TESTED

    		 13 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
  • Ear Malformations, Microtia
    Details

    TEST CODE

    		 915.00

    GENES TESTED

    		 39 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
  • Hyperinsulinism
    Details

    TEST CODE

    		 981.00

    GENES TESTED

    		 17 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Congenital anomalies of the kidney and urinary tract (CAKUT)
    Details

    TEST CODE

    		 209.01

    GENES TESTED

    		 64 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Renal disease and electrolytes - entire panel
    Details

    TEST CODE

    		 222.06

    GENES TESTED

    		 250 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
  • Kabuki syndrome
    Details

    TEST CODE

    		 271.00

    GENES TESTED

    		 2 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks

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