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

• 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

• Alagille syndrome

  Details

  TEST CODE	187.00
  GENES TESTED	2 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Cholestasis / Parenchymal liver damage

  Details

  TEST CODE	189.01
  GENES TESTED	64 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Hepatic and pancreatic diseases - entire panel

  Details

  TEST CODE	192.01
  GENES TESTED	80 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Neuropathy, motor and sensory - CMT1, CMT2, dHMN

  Details

  TEST CODE	288.03
  GENES TESTED	155 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Neuropathy/motor neuropathy comprehensive panel

  Details

  TEST CODE	086.09
  GENES TESTED	300 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Congenital anomalies of the kidney and urinary tract (CAKUT)

  Details

  TEST CODE	209.01
  GENES TESTED	64 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Renal disease and electrolytes - entire panel

  Details

  TEST CODE	222.06
  GENES TESTED	250 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