Newborn genetic screening is the analysis of DNA to identify the risk of diseases that may not present symptoms immediately after birth. It enables early detection of more than 113 rare conditions, which differs from standard blood screening that only measures current biochemical markers. Early detection allows for timely and more effective treatment planning.

Your baby looks perfectly healthy; however you should be aware that some genetic conditions show no signs at birth, only appearing weeks, months, or even years later. That is why parents around the world are choosing newborn genetic screening to catch potential health risks early, when treatment works best.

At Bumrungrad International Hospital, families can access advanced newborn genetic sequencing that goes far beyond the standard blood test. This guide explains how it works, what it covers, and whether it is right for your baby.
 

What Is Newborn Genetic Screening?

Newborn genetic screening is a medical test that analyzes your baby's DNA to assess the risk for inherited conditions. Unlike a standard blood test that measures how the body is working right now (hormones, enzymes, proteins), genetic screening looks directly at the DNA to identify risks that may be a threat in the future.

What Every Newborn at Bumrungrad Already Receives

Every baby born at Bumrungrad International Hospital automatically receives a standard biochemical screening as part of routine newborn care. This is included at no extra charge.

Standard Biochemical Screening: The Basics

A small blood sample is taken from your baby at least 48 hours after birth. The lab checks enzyme, hormone, and protein levels to see if major body functions are working normally.
The test detects up to 40 conditions, including metabolic disorders, enzyme deficiencies, and hormonal abnormalities.
Results are available within 1 to 2 weeks.
This test is an important safety net, but it has a limitation: it can only detect conditions that are already affecting your baby's body chemistry. Some genetic conditions stay "silent" in the early weeks of life.

Newborn Genetic Sequencing: A Deeper Look at Your Baby's Health

For more comprehensive insight, Bumrungrad offers an optional genetic sequencing test that analyzes 246 genes linked to 113 genetic conditions. This is one of the most thorough newborn screening options available in Southeast Asia.

How It Works

A blood sample is drawn from a peripheral vein (taken alongside the routine screening, so there is no need for a second blood drawing for your baby). The sample goes to the Bumrungrad Genomic Medicine Center, where specialists analyze your baby's DNA.
Results are ready in about 4 weeks. A genetic counselor or specialist will walk you through the findings.

Standard Screening vs. Genetic Sequencing

 

	Standard Biochemical Screening	Genetic Sequencing (Optional)
Sample Collection	Heel prick or vein draw	Vein draw (same time as standard test)
Timing	After 48 hours
Conditions Detected	~40 types	113 types (246 genes)
Results Ready	1–2 weeks	~4 weeks
What It Checks	Blood chemistry (enzymes, hormones)	Baby's DNA directly
Coverage Level	Basic safety net	Comprehensive genetic analysis

 

What Conditions Can Genetic Sequencing Detect?

The test detects the genes for a wide range of genetic conditions that may appear in infancy or early childhood. Here are some of the key categories:

Blood Disorders

Alpha and beta thalassemia, sickle cell disease, and other inherited anemias. These are especially relevant for families of Southeast Asian, Mediterranean, African, or Middle Eastern descent.
 

Muscle and Nervous System Conditions

Spinal muscular atrophy (SMA), Duchenne muscular dystrophy, epilepsy, and other neurological disorders. Early detection of SMA, in particular, can be life-changing because treatment is most effective when started before symptoms appear.

Hearing Loss

Some forms of deafness are genetic. The test also identifies babies who carry a specific gene mutation that makes them sensitive to certain antibiotics (aminoglycosides), which can cause hearing damage. Knowing this in advance helps doctors choose safer medications.

Immune Deficiency

Severe combined immunodeficiency (SCID), sometimes called "bubble boy disease," and other primary immune disorders. Babies with SCID appear healthy at birth but are extremely vulnerable to infections. Early detection is critical.

Metabolic Disorders

Phenylketonuria (PKU), maple syrup urine disease (MSUD), methylmalonic acidemia, and many others. These conditions affect how the body processes food and nutrients. Many are manageable with early dietary changes or treatment.

And More

The test also screens for lysosomal storage disorders (such as Fabry disease and Niemann-Pick disease), endocrine disorders (such as congenital adrenal hyperplasia), pulmonary conditions, as well as over 60 additional genetic conditions.

Who Should Consider Newborn Genetic Sequencing?

Genetic sequencing is available to any family delivering at Bumrungrad. It is especially worth considering if:

• There is a family history of genetic conditions (thalassemia, muscular dystrophy, metabolic disorders, etc.)
• You or your partner are carriers of known genetic mutations
• You want to screen for conditions that may not show symptoms in the first months or years of life
• You are looking for a proactive approach to your child's long-term health
• You want comprehensive genetic information to share with your child's pediatrician for personalized care planning

 
About 80% of rare diseases are genetic in origin. Many genetic conditions occur in people from families with no prior history of it.

What to Expect: Step by Step

Step 1: Consultation
Before the test, you will meet with a specialist at the Bumrungrad Genomic Medicine Center. They will explain the test, answer your questions, and help you decide if it is right for your family.
Step 2: Sample collection
 A small blood sample is drawn from your baby, typically at the same time as the standard newborn screening (48+ hours after birth).
Step 3: Lab analysis
The Genomic Medicine Center analyzes 246 genes for 113 conditions using advanced sequencing technology.
Step 4: Results and guidance
Results are typically ready in about 4 weeks. A genetic specialist will review the findings with you, explain what they mean, and recommend next steps if needed.

Important Things to Know

• The standard biochemical screening is included for all babies born at Bumrungrad. Genetic sequencing is optional.
• Consulting a specialist is required before proceeding with the genetic test.
• Results are meant to guide care planning. They do not replace a formal medical diagnosis.
• All testing is performed at the Bumrungrad Genomic Medicine Center, by an expert team of geneticists and pediatric specialists using internationally certified technology.

 

Frequently Asked Questions (FAQ)

Q: Is newborn genetic screening the same as the standard blood test my baby gets at birth?
A: No. The standard blood test (biochemical screening) checks how your baby's body is functioning right now by measuring enzymes and hormones. Genetic sequencing goes deeper — it reads your baby's DNA to find inherited conditions that may not show symptoms yet. Both tests are valuable, and they complement each other.
Q: Does my baby need an extra blood sample for the genetic test?
A: No. The blood sample for genetic sequencing is typically drawn at the same time as the routine newborn screening, so your baby does not need a separate blood sample.

Q: How long does it take to get results?
A: The standard biochemical screening results come back in 1 to 2 weeks. Genetic sequencing results take about 4 weeks.

Q: What happens if the test discovers a potential risk?
A: A genetic specialist at the Bumrungrad Genomic Medicine Center will review the results with you in detail. If a risk is identified, the team will recommend a personalized care plan, which may include specialist referrals, monitoring, dietary changes, or early treatment depending on the findings.

Q: Can I do this test if my baby was not born at Bumrungrad?
A: The program is designed for newborns delivered at Bumrungrad only. Families with young children who were born at Bumrungrad may also inquire about genetic testing. Contact the Genomic Medicine Center for more information.

Q: Is genetic sequencing covered by insurance?
A: Coverage varies by insurance provider and plan. We recommend checking with your insurer before your delivery. The Bumrungrad team can also help with cost-related questions.

Q: How many conditions does the genetic test screen for?
A: The genetic sequencing test analyzes 246 genes associated with 113 genetic conditions, including blood disorders, metabolic conditions, immune deficiencies, hearing loss, and neurological disorders.

Book a Consultation

If you are expecting a baby or have recently given birth at Bumrungrad, speak with the Genomic Medicine Center team to learn whether newborn genetic sequencing is right for you.

 

By: Bumrungrad Genomic Medicine Center