Test Catalog

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PAX6

Clinical Area

Gene Panel Sequencing

  • Differential diagnoses in congenital nystagmus
    Details

    TEST CODE

    		 784.01

    GENES TESTED

    		 12 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Monogenic cone-rod (CORD) and macular dystrophies
    Details

    TEST CODE

    		 775.01

    GENES TESTED

    		 62 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Corneal dystrophies
    Details

    TEST CODE

    		 172.02

    GENES TESTED

    		 25 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Congenital glaucoma and cleavage syndromes – core panel
    Details

    TEST CODE

    		 171.02

    GENES TESTED

    		 9 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • 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
  • Cataract - core panel
    Details

    TEST CODE

    		 168.00

    GENES TESTED

    		 14 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Microphthalmia-Anophthalmia-Coloboma complex (MAC)
    Details

    TEST CODE

    		 119.02

    GENES TESTED

    		 60 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Microphthalmia-Anophthalmia-Coloboma complex (MAC) - core panel
    Details

    TEST CODE

    		 167.00

    GENES TESTED

    		 8 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Macular and Retinal diseases - complete panel
    Details

    TEST CODE

    		 785.02

    GENES TESTED

    		 214 Genes

    METHOD

    		 Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    		 2-4 ml EDTA blood

    TURNAROUND TIME

    		 3-6 weeks
  • Retinal dystrophies - comprehensive panel
    Details

    TEST CODE

    		 777.02

    GENES TESTED

    		 170 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
  • 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
  • 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

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