Newborn screening follow-up tests

Discover genetic testing for a range of neonatal onset conditions, from molecular confirmation of newborn screening results to tests designed to provide rapid detection and accurate genetic diagnosis of neonates in crisis. Single gene and panel testing, developed by our team of experts is available. Genetic testing in neonates can aid in early detection and diagnosis, giving families and physicians important information for exceptional care.

Showing 6 out of 6 tests

Hypermethioninemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)Test 10133
4 Genes

Hyperphenylalaninemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)Test 3403
6 Genes

Hyperphenylalaninemia/Phenylalanine Hydroxylase Deficiency via the PAH Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)Test 9725
1 Gene

Maple Syrup Urine Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)Test 3281
3 Genes

PGmax - Neonatal Crisis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle7 - 16 daysTest 7383

Tyrosinemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)Test 5011
4 Genes