Metabolic Genetic Testing

Metabolic Genetic Testing is a specialized diagnostic tool that analyzes an individual’s DNA to identify genetic mutations causing metabolic disorders. These disorders affect the body’s ability to convert food into energy properly due to enzyme deficiencies or dysfunctions in metabolic pathways. Early detection through this testing helps in managing or preventing complications by guiding targeted treatments, dietary adjustments, and lifestyle changes. Metabolic disorders are inherited conditions where the body’s metabolism is disrupted, leading to the buildup or deficiency of substances essential for health. Examples include phenylketonuria, maple syrup urine disease, and mitochondrial disorders, which can cause developmental delays, organ damage, or other serious health issues.

Why Choose This Metabolic Genetic Testing?

Choosing Metabolic Genetic Testing is crucial because it provides precise insights into inherited metabolic conditions that may not be easily diagnosed through standard tests. This testing enables early detection, allowing timely intervention that can prevent severe complications and improve patient outcomes. It guides personalized treatment strategies, including dietary modifications and targeted therapies, to manage or mitigate symptoms effectively. Additionally, it offers important information for genetic counseling, helping families understand risks and make informed decisions. Overall, metabolic genetic testing is a powerful tool for improving health management and quality of life for those affected by metabolic disorders.

When Is It Used?

When a patient shows symptoms of a suspected metabolic disorder, such as developmental delays, unexplained seizures, or growth problems.
To confirm a diagnosis after abnormal results from newborn screening tests.
In cases of unexplained recurrent vomiting, lethargy, or metabolic crises.
When there is a family history of metabolic or genetic disorders.
To guide treatment decisions and management plans for diagnosed metabolic conditions.
For carrier screening in prospective parents with a family history of metabolic diseases.
To identify the genetic cause of unexplained symptoms like muscle weakness or failure to thrive.

Who Should Consider Metabolic Genetic Testing?

Metabolic genetic testing should be considered by individuals who show signs or symptoms of a metabolic disorder, as well as those with a known family history of such conditions. Early testing is especially important for infants and children with unexplained developmental issues or recurring health problems. It also benefits adults with undiagnosed metabolic symptoms and couples planning a family who may be carriers of inherited metabolic diseases. Testing can help provide clarity, guide appropriate treatment, and inform family planning decisions.

You should consider this test if:

Individuals with symptoms like developmental delay, seizures, or metabolic crises.
Newborns with abnormal results from routine metabolic screening.
Children or adults with unexplained fatigue, vomiting, or failure to thrive.
Individuals with a known family history of metabolic disorders.
Parents who have previously lost a child to an undiagnosed illness.
Couples planning a pregnancy, especially if they are from high-risk ethnic groups.
Siblings or relatives of someone diagnosed with a metabolic condition.

How We Work

How is the Test Performed?

Our Services

Just a few of the many health issues we screen for

Maple Syrup Urine Disease (MSUD)

A disorder affecting branched-chain amino acid breakdown, causing sweet-smelling urine, poor feeding, and neurological damage without early dietary management.

Methylmalonic Acidemia (MMA)

A condition impairing protein and fat metabolism, resulting in developmental delays, lethargy, and potential life-threatening metabolic crises if untreated.

Glycogen Storage Disease Type I

Affects glycogen breakdown, leading to low blood sugar, enlarged liver, and growth delays unless managed with frequent feeding and dietary control.

Phenylketonuria (PKU)

An inherited disorder causing phenylalanine buildup, leading to brain damage if untreated through strict dietary protein restriction starting in infancy.

Homocystinuria

Caused by impaired methionine metabolism, leading to eye issues, blood clots, and intellectual disability without early intervention and vitamin supplementation.

Propionic Acidemia

Disrupts the breakdown of certain amino acids and fats, leading to severe metabolic crises, developmental delays, and potential coma without treatment.

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
Comprehensive Thyroid Panel
Food Sensitivity & Allergy Testing (IgG/IgE Panels)
STI/STD Comprehensive Panel (PCR or Blood Tests)
Diabetes Panel (HbA1c, Fasting Glucose, Insulin, C-Peptide)
Autoimmune Disease Panel

Comprehensive Thyroid Panel
Comprehensive Thyroid Panel
Food Sensitivity & Allergy Testing (IgG/IgE Panels)
STI/STD Comprehensive Panel (PCR or Blood Tests)
Diabetes Panel (HbA1c, Fasting Glucose, Insulin, C-Peptide)
Autoimmune Disease Panel

TESTS

NGS TESTING

PCR TESTING

Infectious Disease