Gene Panel Sequencing

  • Fetal akinesia / Arthrogryposis multiplex congenita (AMC)

    TEST CODE

    078.03

    GENES TESTED

    189 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Clinical Exome Single

    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

    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
  • Malignant hyperthermia susceptibility

    TEST CODE

    076.00

    GENES TESTED

    2 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Encephalopathies (mitochondrial/epileptic)

    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
  • Muscle weakness (myopathy, muscular dystrophy) - comprehensive panel

    TEST CODE

    089.07

    GENES TESTED

    222 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Muscle weakness, early-onset, Floppy Infant

    TEST CODE

    037.04

    GENES TESTED

    131 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • CK-elevation, isolated

    TEST CODE

    974.00

    GENES TESTED

    9 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Muscle weakness, adult-onset

    TEST CODE

    045.03

    GENES TESTED

    106 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Muscle disease with contractures and/or rigid spine

    TEST CODE

    043.01

    GENES TESTED

    26 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Myopathy, congenital - nemaline / core / centronuclear

    TEST CODE

    026.04

    GENES TESTED

    19 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Myopathy, congenital - centronuclear

    TEST CODE

    028.01

    GENES TESTED

    5 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Metabolic myopathy and rhabdomyolysis

    TEST CODE

    025.03

    GENES TESTED

    31 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • CPEO (Chronic progressive external ophthalmoplegia), nuclear genes and phenocopies

    TEST CODE

    255.00

    GENES TESTED

    35 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Z - Neuromuscular disorders - comprehensive Panel

    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
  • Neuropathy/motor neuropathy comprehensive panel

    TEST CODE

    086.08

    GENES TESTED

    299 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks
  • Periodic Paralysis

    TEST CODE

    077.02

    GENES TESTED

    4 Genes

    METHOD

    Next Generation Sequencing (NGS)

    SAMPLE REQUIREMENTS

    2-4 ml EDTA blood

    TURNAROUND TIME

    3-6 weeks

Contact Us to find out if we offer a single gene analysis for this gene.