Gene Panel Sequencing

• Syndrome with seizures - Epigenetic signature

  Details

  TEST CODE	1022.00
  GENES TESTED	14 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• 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

• 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

• Angelman/Rett-like phenotypes

  Details

  TEST CODE	155.02
  GENES TESTED	29 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

• X-linked mental retardation

  Details

  TEST CODE	154.02
  GENES TESTED	109 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks