TEST CODE: 008836
DIAGNOSTIC TEST FOR: METABOLIC DISORDERS
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for Metabolic Disorders
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Hundreds of inherited metabolic disorders have been identified, including disorders of lysosomal storage, fatty acid oxidation, creatine metabolism, glycosylation, glycogen storage and urea cycle, peroxisomal disorders, organic acidemias, hypoglycemia, hyperinsulinism and ketone metabolism deficiency, lipodystrophy, hyperphenylalaninemia, and mitochondrial DNA depletion. These medical conditions vary in severity and age of onset, and they can cause lifelong health problems or death. Early detection of congenital metabolic disorders is important to prevent the morbidity, mortality, and disabilities associated with the inherited disorder.
What genetic diagnostics can be offered to patients with metabolic disorders?
Genetic diagnostics is the most efficient way to subtype metabolic disorders, and provides the necessary information to make confident individualized treatment and management decisions. For example, in coenzyme q10 deficiency, a correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. As another example, enzyme replacement therapy (ERT) is available for nine specific forms of lysosomal storage diseases, and each ERT augments or replaces the activity of a specific endogenous catabolic enzyme within cellular lysosomes.
Genetic diagnostics of metabolic myopathy and rhabdomyolysis, as well as fatty acid metabolism, are estimated to be cost-effective for public health systems (UK Genetic Testing Network, UKGTN evaluation, 2015). Additionally, genetic diagnosis is considered an effective tool for family-member risk stratification. Identifying at-risk relatives makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Moreover, detecting the causative mutation establishes the mode of inheritance in the family, which is essential for well-informed genetic counseling. Genetic diagnosis can also help in family planning.
What are the benefits of genetic testing?
Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– uncover potential risk of developing an underlying, mult-isystem condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions
Genomed’s Metabolic disorder panels
CLINICAL AREA: PRIMARY HYPEROXALURIAS
– Primary Hyperoxaluria Panel
CLINICAL AREA: METABOLIC NEWBORN SCREENING AND IMMUNOLOGY
PORPHYRIAS
– Acute Hepatic Porphyrias Panel
– Comprehensive Porphyrias Panel
METABOLIC DISORDERS NEWBORN SCREENING CONFIRMATION
– Metabolic Disorders Newborn Screening Confirmation Panel
– Lysosomal Storage Disorders Newborn Screening Panel
– X-Linked Adrenoleukodystrophy Newborn Screening Confirmation Test
PANELS BY ANALYTE
– Low C0 Test
– Elevated C0/(C16+C18) Test
– Elevated C3 Panel
– Elevated C3-DC Test
– Elevated C4 Panel
– Elevated C4-DC Panel
– Elevated C4-OH Test
– Elevated C4 and C5 Panel
– Elevated C5 Panel
– Elevated C5-DC Test
– Elevated C5-OH Panel
– Elevated C6, C8 and C10 Test
– Elevated C14 and C14:1 Test
– Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel
– Elevated C16, C16:1, C18, and C18:1 Panel
– Elevated Arginine Test
– Elevated Citrulline Panel
– Low Citrulline Panel
– Elevated Glycine Panel
– Elevated Leucine Panel
– Elevated Methionine Panel
– Elevated Phenylalanine Panel
– Elevated Proline Panel
– Elevated Succinylacetone Test
– Elevated Tyrosine Panel
AMINOACIDOPATHIES
– Alkaptonuria Test
– Combined Methylmalonic Acidemia and Homocystinuria Panel
– Cystinuria Panel
– Disorders of Serine Biosynthesis Panel
– Glycine Encephalopathy Panel
– Homocystinuria Panel
– Hyperphenylalaninemia Panel
– Hyperprolinemia Panel
– Maple Syrup Urine Disease Panel
– Tyrosinemia Panel
CARBOHYDRATE DISORDERS
– Galactosemia Panel
– Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test
– Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome Test
– Comprehensive Glycogen Storage Disease Panel
– Liver Glycogen Storage Disease Panel
– Muscle Glycogen Storage Disease Panel
– Hereditary Fructose Intolerance Test
– Rare Carbohydrate Disorders Panel
CEREBROTENDINOUS XANTHOMATOSIS
– Cerebrotendinous Xanthomatosis Test
CONGENITAL DISORDERS OF GLYCOSYLATION
– Congenital Disorders of Glycosylation Panel
CREATINE BIOSYNTHESIS AND TRANSPORT DISORDERS
– Cerebral Creatine Deficiency Panel
CYSTIC FIBROSIS
– Cystic Fibrosis Newborn Screening Confirmation Test
FATTY ACID OXIDATION DEFECTS
– Fatty Acid Oxidation Defects Panel
– Ketogenesis Disorders Panel
– Ketolysis Disorders Panel
– Medium Chain Acyl-CoA Dehydrogenase Deficiency Test
– Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel
– Very Long Chain Acyl-CoA Dehydrogenase Deficiency Test
LYSOSOMAL STORAGE DISORDERS
– Comprehensive Lysosomal Storage Disorders Panel
– Cystinosis Test
– Fabry Disease Test
– Farber Lipogranulomatosis Test
– GM2 Gangliosidosis Panel
– Krabbe Disease Test
– Lysosomal Acid Lipase Deficiency Test
– Metachromatic Leukodystrophy Panel
– Mucolipidosis Panel
– Comprehensive Mucopolysaccharidoses (MPS) Panel
– Mucopolysaccharidosis Type I (MPS I) Test
– Mucopolysaccharidosis Type II (MPS II) Test
– Mucopolysaccharidosis Type III (MPS III) Panel
– Mucopolysaccharidosis Type IV (MPS IV) Panel
– Invitae Multiple Sulfatase Deficiency Test
– Comprehensive Neuronal Ceroid Lipofuscinoses Panel
– Niemann-Pick Disease Types A and B Panel
– Niemann-Pick Disease Type C Panel
– Oligosaccharidoses Panel
– Pompe Disease Test
– Prosaposin Deficiency Test
– Sandhoff Disease Test
– Tay-Sachs Disease Test
METAL TRANSPORT DISORDERS
– Neurodegeneration with Brain Iron Accumulation Panel
– ATP7A-Related Disorders
– Copper Metabolism Disorders Panel
– Wilson Disease Test
NEUROTRANSMITTER DISORDERS
– Neurotransmitter Disorders Panel
– Hereditary Hyperekplexia Panel
ORGANIC ACIDEMIAS
– Organic Acidemias Panel
– 2-Hydroxyglutaric Aciduria Panel
– 3-Methylcrotonyl-CoA Carboxylase Panel
– 3-Methylglutaconic Aciduria Panel
– Barth Syndrome Test
– Biotinidase Deficiency Test
– Canavan Disease Test
– Glutaric Acidemia Type I Test
– Combined Methylmalonic Acidemia and Homocystinuria Panel
– Methylmalonic Acidemia Panel
– Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel
– Multiple Carboxylase Deficiency Panel
– Propionic Acidemia Panel
PEROXISOMAL DISORDERS
– Adult Refsum Disease Panel
– Rhizomelic Chondrodysplasia Punctata Spectrum Panel
– X-linked Adrenoleukodystrophy (X-ALD) Test
– Zellweger Spectrum Disorder Panel
PURINE METABOLISM DISORDERS
– Purine Metabolism Disorders Panel
– Lesch-Nyhan Syndrome Test
PYRUVATE METABOLISM AND TRICARBOXYLIC ACID CYCLE DEFECTS
– 2-Ketoglutarate Dehydrogenase Deficiency Panel
– Citrate Transporter Deficiency Test
– Dihydrolipoamide Dehydrogenase Deficiency Test
– Fumarase Deficiency Test
– Pyruvate Carboxylase Deficiency Test
– Pyruvate Dehydrogenase Deficiency Panel
SYMPTOM-BASED METABOLIC PANELS
– Leukodystrophy and Genetic Leukoencephalopathy Panel
– Cerebral Palsy Spectrum Disorders Panel
– Hyperammonemia Panel
– Mendelian Disorders with Psychiatric Symptoms Panel
– Metabolic Non-Immune Fetal Hydrops Panel
TREATABLE DISORDERS
– Alpha-1 Antitrypsin Deficiency Test
– Monogenic Diabetes Panel
– Treatable Neurometabolic Disorders Panel
– Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) Test
UREA CYCLE DISORDERS
– Urea Cycle Disorders Panel
– Arginase Deficiency Test
– Ornithine Transcarbamylase (OTC) Deficiency Test
HYPOPHOSPHATEMIA
– X-Linked Hypophosphatemia Test
– Hypophosphatemia Panel
Please contact us for the complete list of genes included on the multi-immunology panel and associated conditions.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your result.
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease