banner

Newborn Screening Test

Possibility of Early Medical Intervention for Treatable Genetic Disorders

$370

Buy

Early insight
that saves lives.

Early insight that
saves lives.

icon icon

More than 8 million babies worldwide are born with a birth defect each year1. Many of them appear healthy at birth and come from families with no history of the disorder. Birth defects cause 1 out of every 5 deaths in infants and lead to lifelong disabilities and challenges for those who do survive.

Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.

SZA Longevity Newborn Screening Test identifies DNA changes that could cause severe or life-altering symptoms in an infant. This analysis includes 1054 genes and assesses over 1200 disorders, covering many conditions beyond any legislated standards for newborn screening. This test covers only early-onset conditions where early detection, intervention, and management could prove essential for the infant's overall health and quality of life.

Focus on coding
regions of the genome.

icon icon

SZA Longevity Newborn Screening Test uses Whole-exome sequencing (WES) which is a widely used next-generation sequencing (NGS) method. WES provides coverage of more than 95% of the exons, (the expressed or the protein-coding regions of the genome), which harbor the majority of the large genetic variants and single nucleotide polymorphisms (SNPs) associated with human disease phenotypes2. Of the ~3 billion bases that comprise the human genome, only about 1% is represented by coding sequences2 .

Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. It enables your healthcare provider to focus on the genes most likely to affect phenotype.

Important note.

icon icon

Exome sequencing is limited to the variants found in the coding region of genes which affect protein functionality. The other variants such as the structural and non-coding variants associated with diseases can not be identified with this test. Genome-wide sequencing methods will allow the identification of all the variant types which could be associated with the pathogenic phenotypes. If you need a more comprehensive analysis, you can upgrade your test to Whole Genome sequencing based Comprehensive Newborn Screening Test.

icon icon You can learn more about WES based testing here.

How it works?

icon icon
icon

1Contact your healtcare provider to order a specimen kit

icon

2Schedule a time for a sample collection with your provider

icon

3Fill out a requisition & consent form with your provider

icon

4Send sample & paperwork to SZA Longevity for processing

icon

5Results are returned to the provider in 2 - 3 weeks

icon

6Discuss results with your provider

Actionable and
Well-defined Results

icon icon

Our reports always contain well-defined actionable results, recommendations, and follow-up options. They are phenotype-driven and focused on reporting findings related to the baby’s clinical presentation / indications. Our test is in compliance with ACMG guidelines3 .

Simplified

icon icon

Results are provided directly to your pediatrician or health-care provider with clear follow-up recommendations. This test can induce a more complex follow-up testing for affected infants.

icon iconIn our reports we target the following conditions:

Cardiovascular conditions, including

  • Alagille syndrome 1
  • Glycogen storage disease, type II

Endocrine conditions, including

  • Corticosterone methyloxidase
    deficiency
  • Familial hyperinsulinism
  • Hyperinsulinism-hyperammonemia
    syndrome

Hepatic conditions, including

  • Acute infantile liver failure
  • Gilbert syndrome
  • Glycogen storage disease, type VI

Immunodeficiencies, including

  • Adenosine deaminase deficiency
  • Chronic granulomatous disease
  • Severe combined immunodeficiency

Hematologic disorders, including

  • Factor IX deficiency
  • Hemolytic anemia
  • Spherocytosis, type 1

Neurological conditions, including

  • Segawa syndrome
  • Spinal muscular atrophy

Metabolic disorders, including

  • Cystinosis
  • Hereditary fructose intolerance
  • Mucopolysaccharidosis, type VI

Renal conditions, including

  • Alport syndrome
  • Distal renal tubular acidosis
  • Primary hyperoxaluria, type 2

Skeletal disorders, including

  • Hypophosphatasia
  • Marfan syndrome
  • Osteopetrosis 1

Pulmonary disorders, including

  • Cystic fibrosis

icon icon Newborn Screening
Test Brochure

icon icon Consent Form

icon icon You can learn more about screened genes and related disorders here: Genes Included on SZA Longevity Newborn Screening Test

icon icon Contact your local SZA Longevity representative for more information or
you can send your queries to info@szalongevity.com

icon icon 1-World Birth Defects Day 2022: Global Efforts to Prevent Birth Defects and Support Families. Retrieved January 17, 2023 from
https://www.cdc.gov/globalhealth/stories/2022/world-birth-defects-day-2022.
2-Rabbani B., Tekin M., Mahdieh N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59, 5–15 (2014).
3-Manickam K., McClain M.R., Demmer L.A. et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics. Genet Med 23, 2029-2037 (2021).