NEONATAL INTENSIVE CARE UNIT (NICU) GENETIC TESTING

Up to a third of babies admitted to the NICU have a genetic disorder.1 Proper treatment and management depend on accurate diagnosis, and DNA testing can help. Our flexible testing options are available to aid in timely diagnostic assessment and confirmation.

Below is a list of our testing most relevant to patients in the NICU, with links for more details.

Indication Condition Name Genes TAT (Days)
Abnormal Newborn Screen      
Abnormal Newborn Screen Cystic fibrosis CFTR 5-13
Beta-thalassemia, sickle-cell anemia, sickle-beta thalassemia HBB 14-28
X-linked adrenoleukodystrophy ABCD1 14-28
Cardiology      
Congenital heart defects SNP Array Chromosomal microarray 10-21
Dilated cardiomyopathy, congestive heart failure, mitral or tricuspid valve regurgitation Neonatal Marfan syndrome FBN1 14-28
Rhabdomyosarcoma Tuberous sclerosis complex TSC1 and TSC2 14-21
Multiple Congenital Anomalies      
Comprehensive SNP Array Chromosomal microarray 10-21
ExomeNext-Rapid Exome sequencing Verbal in 8 days
Single Syndrome CHARGE syndrome CHD7 14-28
Cornelia de Lange syndrome 5 genes 14-28
Rubinstein-Taybi syndrome CREBBP 14-28
Smith-Lemli-Opitz syndrome DHCR7 14-28
Endocrinology      
Hyperglycemia Maturity-onset diabetes of the young 5 genes 28-35
Adrenocortical carcinoma Li-Fraumeni syndrome TP53 10-21
Gastroenterology      
Failure to pass meconium within 48 hours after birth, abdominal distention, repeated vomiting Hirschsprung disease RET 10-21
Hyperammonemia Ornithine transcarbamylase deficiency OTC 14-28
Jaundice, bile duct paucity Alagille syndrome JAG1 14-28
Meconium ileus Cystic fibrosis CFTR 5-13
Hematology      
Congenital hypoplastic anemia Diamond-Blackfan anemia 11 genes 14-28
Neurology      
Choroid plexus carcinoma Li-Fraumeni syndrome TP53 10-21
Hypotonia Prader-Willi syndrome Methylation studies of chromosome 15q11-13 7-14
SNP Array Chromosomal microarray 10-21
Seizures EpiFirst-Neonate 10 genes 21-35
EpiRapid 16 genes 8-10
Seizures and microcephaly Neuronal ceroid lipofuscinosis 13 genes 28-42
Ophthalmology      
Congenital cataracts Lowe syndrome OCRL 14-28
Ocular tumors Retinoblastoma RB1 14-21
Respiratory      
Respiratory distress/failure Surfactant dysfunction 3 genes 5-14
Primary ciliary dyskinesia 21 genes 28-35
Congenital central hypoventilation syndrome PHOX2B 14-28

 

References

  1. Baker M. Rapid test pinpoints newborns' genetic diseases in days. Nature | News [Internet]. October 3, 2012. Nature Publishing Group. Available at http://www.nature.com/news/rapid-test-pinpoints-newborns-genetic-diseases-in-days-1.11527 [Accessed September 12, 2016].
  2. McFetridge, L et al. Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). Ulster Med J. 2009 Jan; 78(1): 7-9.
  3. Plouin P and Kaminska A. Neonatal seizures. Handb Clin Neurol. 2013;111:467-76.
  4. Update on Overall Prevalence of Major Birth Defects – Atlanta, Georgia, 1978-2005. Centers for Disease Control and Prevention. Morbidity and Mortality Weekly Report (MMWR). January 11, 2008. 57(1): 1-5.
  5. Inoue S and Lee MT. Pediatric Acute Anemia. Medscape. [Internet]. Updated October 9, 2015. Arceci RJ, editor. Available at http://emedicine.medscape.com/article/954506-overview. [Accessed September 12, 2016]. 
  6. Woodgate P and Jardine LA. Neonatal jaundice. BMJ Clin Evid. 2011 Sep 15; 2011.