Genetic Testing for Malformations

Genetic testing for malformations involves analyzing a person’s DNA to identify genetic changes that may be responsible for congenital anomalies or birth defects. These malformations can affect various organs and structures, such as the heart, limbs, brain, or facial features. The test helps detect inherited or spontaneous mutations that disrupt normal development during pregnancy. It is especially useful for diagnosing syndromic conditions, understanding the cause of abnormalities, guiding treatment decisions, and assessing recurrence risks for future pregnancies. Genetic testing can be performed using blood, saliva, or tissue samples and is valuable for early diagnosis and personalized medical care.

Why Choose This Genetic Testing for Malformations?

Choosing genetic testing for malformations provides critical insights into the underlying causes of congenital anomalies, enabling accurate diagnosis and informed medical decisions. It helps distinguish between genetic and environmental factors, guides treatment planning, and allows for early interventions that can improve outcomes. For families, it offers clarity and emotional reassurance by identifying whether a malformation is part of a genetic syndrome or a one-time occurrence. This testing also aids in assessing recurrence risks in future pregnancies, supporting reproductive planning. Overall, it empowers patients, parents, and healthcare providers with precise information for personalized and proactive care.

When Is It Used?

At birth – When a baby is born with visible congenital anomalies or developmental abnormalities.
During pregnancy – If prenatal imaging (like ultrasound) detects structural defects or malformations in the fetus.
Family history – When there’s a known family history of genetic disorders or birth defects.
Developmental delays – In children showing delayed growth, motor skills, or intellectual development alongside physical anomalies.
Multiple malformations – When more than one organ system is affected, suggesting a syndromic cause.
Unexplained stillbirth or miscarriage – To determine if a genetic cause was involved.
Preimplantation or preconception screening – For parents at high risk of passing on genetic conditions.

Who Should Consider Genetic Testing for Malformations?

Genetic testing for malformations is recommended for individuals or families facing congenital anomalies or unexplained birth defects. Parents who have had a child with malformations, those with a family history of genetic syndromes, or couples experiencing recurrent miscarriages or stillbirths should consider testing. It is also advised when prenatal scans detect abnormalities or when a child shows developmental delays combined with physical malformations. This testing helps clarify diagnoses, guide medical care, and inform reproductive decisions, providing valuable information for managing current and future pregnancies.

You should consider this test if:

Parents of a child born with congenital malformations
Individuals with a family history of genetic disorders or birth defects
Couples with recurrent miscarriages or stillbirths Pregnant women with abnormal prenatal ultrasound findings
Children showing multiple congenital anomalies and developmental delays
Families seeking information for future reproductive planning
Healthcare providers evaluating complex or unexplained malformations

How We Work

How is the Test Performed?

Our Services

Just a few of the many health issues we screen for

Down Syndrome

A chromosomal disorder causing intellectual disability, distinctive facial features, and heart defects, resulting from an extra copy of chromosome 21.

Congenital Heart Defects

Structural abnormalities of the heart present at birth, impacting blood flow and potentially causing serious health complications early in life.

Turner Syndrome

A chromosomal condition in females characterized by missing or incomplete X chromosome, causing short stature, infertility, and heart abnormalities.

Hydrocephalus

Accumulation of cerebrospinal fluid in the brain ventricles, often caused by genetic defects, leading to increased head size and neurological impairments.

Ehlers-Danlos Syndrome

A group of connective tissue disorders causing hyper-flexible joints, fragile skin, and vascular complications resulting from collagen gene mutations.

Cri-du-Chat Syndrome

Caused by deletion on chromosome 5, characterized by intellectual disability, delayed development, and a distinctive high-pitched cry in infancy.

Who we Are

Why Choose Us?

State-of-the-Art Digital Lab Experience

Our fully integrated E-Lab platform offers online test ordering, real-time tracking, and secure digital reporting bringing convenience and control to both physicians and patients across the country.

Advanced Diagnostic Technology

From routine blood tests to complex genetic panels, we leverage cutting-edge platforms like NGS, PCR, and AI-powered analytics for maximum accuracy and clinical relevance.

Fast Turnaround, Local Support

With lab facilities based in Florida, we ensure faster processing times and direct access to our expert team. You get timely results backed by responsive, local customer support.

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Comprehensive Thyroid Panel
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Diabetes Panel (HbA1c, Fasting Glucose, Insulin, C-Peptide)
Autoimmune Disease Panel

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