Metabolic Disorders Genetic Panel
Inherited metabolic disorder screening
What is this test?
Our Metabolic Disorders Genetic Panel covers over 250 genes associated with inborn errors of metabolism (IEM). These conditions affect how the body processes amino acids, organic acids, fatty acids, carbohydrates, and other essential molecules. An early and accurate genetic diagnosis can be life-saving, enabling dietary interventions and targeted therapies before irreversible damage occurs.
Key Benefits
Many IEMs are treatable if caught early. Genetic confirmation allows immediate intervention such as dietary restriction or enzyme replacement therapy.
Critically ill newborns can receive results in as few as 5 business days, enabling rapid clinical decision-making.
Biochemical tests for IEMs can be inconclusive; genetic testing provides a definitive molecular diagnosis.
Most IEMs are autosomal recessive. Identifying the family variants allows carrier testing for siblings and future reproductive planning.
How It Works
Your metabolic specialist or pediatrician orders the test based on clinical suspicion or abnormal biochemistry.
A blood draw or dried blood spot is collected. Stat processing is available for critically ill patients.
250+ metabolic genes are sequenced with deep coverage, including CNV analysis for key deletion-prone loci.
Variants are interpreted by molecular geneticists with specialized knowledge of metabolic pathways and enzyme deficiencies.
The report includes genotype-phenotype correlations, dietary recommendations where applicable, and links to management guidelines.
Who should consider this test?
- Newborns and infants with abnormal newborn screening results
- Children with developmental delays, failure to thrive, or seizures
- Adults with unexplained metabolic crises or organ dysfunction
- Families with a known history of metabolic disease
- Patients with abnormal biochemical test results suggesting an IEM
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted coding regions
The ACMG recommends genetic confirmation for positive newborn screening results. Studies show that early dietary or pharmacological intervention in confirmed IEM cases significantly reduces morbidity and mortality, with PKU being the landmark example of newborn screening success.
Scientific Detail
All coding exons and flanking intronic regions (±20 bp) of 250+ IEM-related genes are captured and sequenced. Bioinformatic pipeline includes BWA-MEM2 alignment to GRCh38, GATK variant calling, and annotation with ClinVar, HGMD, and OMIM. Pharmacogenomic implications (e.g., for enzyme replacement dosing) are noted where relevant.
For Healthcare Providers
This panel targets 250+ genes across all major IEM categories. Sequencing on Illumina platform achieves a minimum 100x mean coverage. CNV analysis is included for genes with known exonic deletions (e.g., SMN1, GAA). Stat processing is available for critically ill neonates. Reflex to WES/WGS is offered for negative panel results.
Important Limitations
- Mitochondrial DNA variants are not assessed by this nuclear gene panel; a dedicated mitochondrial genome test is available separately.
- Some IEMs are caused by variants in non-coding or regulatory regions that may not be covered.
- Biochemical confirmation is recommended alongside genetic testing for certain conditions.
- Enzyme activity assays may still be needed to distinguish between pathogenic and benign variants in some genes.
- Stat turnaround is subject to specimen quality and availability.
Frequently Asked Questions
Test Details
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Speak with our team to learn more about ordering this test or to get a consultation.
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