Natalis with pharmacogenetic analysis

Natalis is a supplemental newborn screening panel for newborns, infants, and young children. This test may be offered to parents as an addition to the state mandated newborn screening that their child received at birth. This panel includes next-generation sequencing, targeting genotyping, and multiplex ligation-dependent probe amplification in a total of 166 genes to screen for 193 conditions that have onset in infancy or early childhood and for which there is treatment or medical management that, when administered early in an infant or child’s life, will significantly improve the clinical outcome. Conditions included in this panel were curated based on criteria such as: inclusion on current state mandated newborn screening panels, onset of symptoms occurring <10 years of age, evidence of high penetrance (>80%), and availability of a treatment or improvement in life due to early intervention.

Sema4 has also designed and validated a pediatric pharmacogenetic (PGx) genotyping panel as an adjunct test to the Natalis assay. This panel includes 10 genes and 41 sequence variants involved in drug response variability. The genes and variants in the PGx genotyping panel inform on more than 40 medications that can be prescribed during childhood. Currently, there is evidence supporting the clinical utility of testing for certain PGx variants for which there are genotype-directed clinical practice recommendations for selected gene/drug pairs. Approximately 95% of all individuals will carry at least one clinically actionable variant in the PGx panel.

A cheek swab, saliva sample, or blood sample is provided by the child and a biological parent. DNA is obtained from the specimens collected. High-throughput, next-generation sequencing is performed to examine multiple genes at one time. In addition, some of the genes on the panel may be partially subjected to Sanger sequencing due to inadequate sequence coverage by next-generation sequencing and targeted pathogenic and likely pathogenic variants may be analyzed by allele specific primer extension analyses. Targeted genotyping analysis looks for the presence of specific variants in the pediatric PGx genotyping panel. Multiplex ligation-dependent probe amplification (MLPA) is used to detect copy number changes for SMN1 and SMN2 (spinal muscular atrophy), HBA1 and HBA2 (alpha thalassemia), CYP2D6, CYP2C9, CYP2C19, and CYP3A5.

All testing is >95% accurate. A negative test result for any given disease does not exclude an individual from having a disease-causing genotype that was not identified by this testing. Only variants determined to have a high likelihood of pathogenicity (pathogenic or likely pathogenic) are reported in this test. Carrier status for autosomal recessive diseases is not reported. Next-generation sequencing of the parental DNA is not performed. If indicated, only targeted testing (genotyping, Sanger sequencing, and/or copy number analysis) is performed on the parental DNA to confirm the inheritance pattern or phase of variants identified in the proband.

Specimen Requirements

Cheek swab

  • Pediatric: 1 cheek swab specimen collected in ORAcollect kit from DNA Genotek
  • Parental: 1 cheek swab specimen collected in ORAcollect kit from DNA Genotek for each biological parent


  • Pediatric: 1 saliva sample collected in ORAGENE DNA (OG-500) kits manufactured by DNA Genotek
  • Parental: 1 saliva sample collected in ORAGENE DNA (OG-500) kits manufactured by DNA Genotek for each biological parent


  • Pediatric: One 5-10 mL EDTA tube (lavender top)
  • Parental: One 5-10 mL EDTA tube (lavender top) for each biological parent

Ordering Information


  • Ship at room temperature
  • Do not freeze
  • Ship to:
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870


Turnaround Time

  • 10-14 days from the receipt of the specimen


Natalis Clinical Information Sheet
Natalis Requisition