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

• Vascular and connective tissue diseases - entire panel

  Details

  TEST CODE	175.07
  GENES TESTED	182 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Ehlers-Danlos Syndrome (EDS)

  Details

  TEST CODE	130.01
  GENES TESTED	15 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Early-onset Stroke / Stroke-Like Episodes

  Details

  TEST CODE	128.02
  GENES TESTED	23 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Risk for Aortic Aneurysms and Aortic Dissections

  Details

  TEST CODE	127.02
  GENES TESTED	20 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Brain malformations / Neuronal migration disorder - entire panel

  Details

  TEST CODE	144.05
  GENES TESTED	280 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Periventricular nodular heterotopia

  Details

  TEST CODE	137.01
  GENES TESTED	3 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

• 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

• 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

• Craniosynostosis

  Details

  TEST CODE	275.01
  GENES TESTED	22 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Skeletal Dysplasia

  Details

  TEST CODE	756.01
  GENES TESTED	77 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