Gene Panel Sequencing

• 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

• Primary Immundeficiencies

  Details

  TEST CODE	907.01
  GENES TESTED	250 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

• FSHD2 and phenocopies

  Details

  TEST CODE	252.02
  GENES TESTED	7 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

  Details

  TEST CODE	089.09
  GENES TESTED	240 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Z - Neuromuscular disorders - comprehensive Panel

  Details

  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