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HomeClinics and CentersBumrungrad Genomic Medicine CenterNewborn Sequencing Service


 

Genetic Sequencing for Newborns
at Bumrungrad International Hospital

 

Many genetic conditions remain invisible at birth,
yet early detection can make all the difference.
Through advanced genetic screening,
you and your baby’s doctors can identify potential health risks
and plan the right care from the start.

 

Benefits of Genetic Sequencing

  • Enables early identification of potential health risks
  • Supports personalized monitoring and care planning for your newborn
  • Helps prevent or minimize future complications
  • Promotes healthy growth and long-term well-being
 

Standard Testing & Add-Ons

 

Program

Standard Screening (Biochemical)

Genetic Analysis (Newborn Sequencing)

Sample Collection

Peripheral vein or heel prick on filter paper

Peripheral vein along with standard screening

Timing

After 48 hours post-birth

After 48 hours post-birth

Conditions Detected

~40 types

113 types

Result Turnaround

1–2 weeks

4 weeks

Coverage

Basic

Comprehensive analysis of genetic disorders beyond biochemical screening, with higher accuracy for early-onset conditions and practical care guidance.


Standard Biochemical Screening

Babies born at Bumrungrad International Hospital receive a standard biochemical screening as part of routine care.

This test measures substances in the blood, such as enzymes, hormones, and proteins, to assess whether organs and metabolic systems are functioning normally. Unlike genetic testing, which analyzes a child’s DNA directly, biochemical screening evaluates how the body is functioning at the time of testing.

 
1. Sample collection:

  • Blood is drawn from a peripheral vein or obtained via a heel prick.
  • Testing is performed at least 48 hours after birth.
  • The standard biochemical screening detects up to 40 conditions, including metabolic disorders, enzyme deficiencies, and hormonal abnormalities.
 
2. Genetic Sequencing
  • An in-depth genetic analysis offered as an optional service to detect potential genetic risks.
  • This advanced test analyzes 246 genes associated with 113 genetic conditions, providing broader insight than standard newborn screening.
  • In addition to the standard biochemical screening, parents can choose this comprehensive genetic sequencing test for greater precision and peace of mind.
 

Sample collection method:

  • Blood is drawn from a peripheral vein for analysis.
 

Key advantages of genetic sequencing

  • Identifies genetic disorders not detectable by biochemical methods.
  • Provides higher accuracy in detecting conditions that may develop before age five.
  • Supports personalized care and long-term health planning.
  • Helps prevent or minimize potential complications.

 

Selected Medical Conditions Detectable through Genetic Sequencing

1. Blood-related conditions

  • Alpha and beta thalassemia
  • Sickle cell disease and other inherited anemias
 
2. Muscle and nervous system conditions
  • Spinal muscular atrophy (SMA)
  • Duchenne muscular dystrophy
  • Epilepsy and other neurological disorders
 
3. Hearing conditions
  • Genetic forms of deafness
  • Hearing loss caused by aminoglycoside antibiotics in individuals with specific genetic mutations
 
4. Immune deficiency conditions
  • Severe combined immunodeficiency (SCID)
  • Other primary immune deficiency disorders
 
5. Metabolic disorders
  • Phenylketonuria (PKU)
  • Maple syrup urine disease (MSUD)
  • Methylmalonic acidemia and other metabolic conditions
  • As well as more than 60 other significant genetic conditions, including:
    –  Lysosomal storage disorders (e.g., Fabry disease, Niemann–Pick disease)
    –  Endocrine disorders (e.g., Congenital Adrenal Hyperplasia, thyroid abnormalities)
    –  Pulmonary and other multisystem disorders


Why Consider Genetic Sequencing?

In addition to the standard biochemical screening every newborn receives, genetic sequencing provides deeper insight into your child’s genetic makeup, offering a clearer understanding of potential health risks and personalized care options.
 
This test is particularly recommended for:

  • Newborns or children with a family history of genetic disorders
  • Parents who wish to screen for conditions that may not show symptoms early in life
  • Families seeking proactive risk assessment to help prevent future complications
  • Those who want comprehensive genetic information to support long-term health planning

 

Important Notes

  • Every newborn delivered at Bumrungrad International Hospital receives the standard biochemical screening as part of routine care.
  • Newborn genetic sequencing is offered as an optional, additional service.
  • A consultation with a specialist is required before proceeding with the genetic sequencing test.
  • Results are intended to guide care planning and do not constitute a medical diagnosis.
 

 

Trusted Standard of Care

  • Delivered by an expert team of geneticists and pediatric specialists
  • Backed by advanced technology meeting international quality and safety standards


 

The Bumrungrad Genomic Medicine Center

3rd floor, Building B (Hospital Building), Bumrungrad International Hospital 
Mon–Fri: 08:00–18:00
Sat–Sun: 08:00–16:00


For inquiries or to schedule an appointment
Tel. : +02 011 4890-1
Email us at : [email protected]

Note: This document provides general information and is not medical advice. Please consult your doctor before testing.
 

 

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