Gene Panel Sequencing

• Microphthalmia-Anophthalmia-Coloboma complex (MAC)

  Details

  TEST CODE	119.02
  GENES TESTED	60 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Syndromes with multiple congenital anomalies (with or without ID) - Epigenetic signature

  Details

  TEST CODE	1019.00
  GENES TESTED	16 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

• Choanal Atresia

  Details

  TEST CODE	916.00
  GENES TESTED	10 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Ear Malformations, Microtia

  Details

  TEST CODE	915.00
  GENES TESTED	39 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Hearing loss

  Details

  TEST CODE	912.03
  GENES TESTED	140 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

• Severe combined immunodeficiency (SCID)

  Details

  TEST CODE	879.00
  GENES TESTED	71 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

• 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

• Reproductive Genetics - comprehensive panel

  Details

  TEST CODE	927.04
  GENES TESTED	176 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Hypogonadotropic hypogonadism - comprehensive panel

  Details

  TEST CODE	860.02
  GENES TESTED	31 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks

• Fertility

  Details

  TEST CODE	734.00
  GENES TESTED	33 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

• Facial Dysostosis

  Details

  TEST CODE	917.00
  GENES TESTED	15 Genes
  METHOD	Next Generation Sequencing (NGS)
  SAMPLE REQUIREMENTS	2-4 ml EDTA blood
  TURNAROUND TIME	3-6 weeks