Metabolic disorders and newborn screening
Hundreds of existing inherited metabolic disorders can contribute to a patient’s inability to break down or produce particular molecules in the body during metabolism. Genetic testing for inherited metabolic disorders, also called inborn errors of metabolism (IEM), can inform potential management and treatment decisions and may identify clinical trial opportunities for your patients.
Categories
Invitae Supplemental Metabolic Newborn Screening Panel
Invitae Supplemental Metabolic Newborn Screening Panel
Test code: 98003 • 10–21 days turnaround time
Genetic testing for genes associated with conditions that may present similarly to metabolic newborn screening disorders but are not screened for by the US newborn screening program.
Invitae Metabolic Newborn Screening Confirmation Panel
Invitae Metabolic Newborn Screening Confirmation Panel
Test code: 06102 • 10–21 days turnaround time
Genetic testing for genes that are associated with metabolic disorders that are routinely screened by US newborn screening (NBS) programs.
Invitae Lysosomal Storage Disorders Newborn Screening Panel
Invitae Lysosomal Storage Disorders Newborn Screening Panel
Test code: 06171 • 10–21 days turnaround time
Genetic testing for genes associated with lysosomal storage disorders appearing on US newborn screening panels.
Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)
Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)
Test code: 06210 • 10–21 days turnaround time
Genetic testing for genes associated with elevated very long chain fatty acids.
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel
Test code: 06145 • 10–21 days turnaround time
Genetic testing for genes associated with elevated phenylalanine on newborn screening (NBS) or plasma amino acid analysis.
Invitae Elevated Proline (Hyperprolinemia) Panel
Invitae Elevated Proline (Hyperprolinemia) Panel
Test code: 06146 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated levels of proline on newborn screening (NBS) or plasma amino acid analysis.
Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test
Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test
Test code: 06166 • 10–21 days turnaround time
Genetic testing for the MCAD deficiency, which is associated with elevated C6, C8, and C10 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.
Invitae Elevated C5-DC (Glutaric Aciduria Type I) Test
Invitae Elevated C5-DC (Glutaric Aciduria Type I) Test
Test code: 06195 • 10–21 days turnaround time
Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I (GA1) and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.
Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel
Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel
Test code: 06197 • 10–21 days turnaround time
Genetic testing for genes associated with simultaneously elevated C4 & C5 acylcarnitines or with multiple acyl-CoA dehydrogenase deficiency (MADD).
Invitae Low C0 Test
Invitae Low C0 Test
Test code: 06103 • 10–21 days turnaround time
Genetic testing for the SLC22A5 gene, which is associated with primary carnitine deficiency and low C0 on newborn screening (NBS) and carnitine analysis.
Invitae Elevated C0/(C16+C18) Test
Invitae Elevated C0/(C16+C18) Test
Test code: 06104 • 10–21 days turnaround time
Genetic testing for carnitine palmitoyltransferase 1 deficiency, a disorder of long-chain fatty acid oxidation that is associated with elevated C0/(C16+C18) acylcarnitine ratio on NBS or acylcarnitine analysis.
Invitae Elevated C3 Panel
Invitae Elevated C3 Panel
Test code: 06105 • 10–21 days turnaround time
Genetic testing for genes associated with elevated C3 on newborn screening (NBS) or in plasma acylcarnitines.
Invitae Elevated C3-DC Panel
Invitae Elevated C3-DC Panel
Test code: 06106 • 10–21 days turnaround time
Genetic testing for genes associated with elevated C3-DC on newborn screening or plasma acylcarnitine.
Invitae Elevated C4 Panel
Invitae Elevated C4 Panel
Test code: 06107 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated C4 on newborn screening (NBS) or plasma acylcarnitines.
Invitae Elevated C4-DC Panel
Invitae Elevated C4-DC Panel
Test code: 06127 • 10–21 days turnaround time
Genetic testing for 2 genes that are associated with elevated C4-dicarboxylic carnitine (C4-DC) on newborn screening (NBS) or acylcarnitine analysis.
Invitae Elevated C4-OH Test
Invitae Elevated C4-OH Test
Test code: 06108 • 10–21 days turnaround time
Genetic testing for the HADH and HIBCH genes, which are associated with medium/short chain acyl-coA dehydrogenase deficiency and elevated C4-OH on acylcarnitine analysis.
Invitae Elevated C5 Panel
Invitae Elevated C5 Panel
Test code: 06110 • 10–21 days turnaround time
Genetic testing for ACADSB and IVD, which are associated with elevated C5 on newborn screening (NBS) or plasma acylcarnitine analysis.
Invitae Elevated C5-OH Panel
Invitae Elevated C5-OH Panel
Test code: 06112 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated C5-OH on newborn screening (NBS) or plasma acylcarnitine analysis.
Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test
Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test
Test code: 06114 • 10–21 days turnaround time
Genetic testing for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency.
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel
Test code: 06115 • 10–21 days turnaround time
Genetic testing for the HADHA and HADHB genes, which are associated with elevated C16-OH, C16:1-OH, C18-OH, and C18:1-OH acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.
Invitae Elevated C16, C16:1, C18, and C18:1 Panel
Invitae Elevated C16, C16:1, C18, and C18:1 Panel
Test code: 06116 • 10–21 days turnaround time
Genetic testing for CPT2 and SLC25A20, which are associated with elevated C16, C16:1, C18, and C18:1 on newborn screening (NBS) or plasma acylcarnitines.
Invitae Elevated Arginine (Arginase deficiency) Panel
Invitae Elevated Arginine (Arginase deficiency) Panel
Test code: 06117 • 10–21 days turnaround time
Genetic testing for genes associated with elevated arginine and Arginase deficiency.
Invitae Elevated Citrulline (Citrullinemia) Panel
Invitae Elevated Citrulline (Citrullinemia) Panel
Test code: 06118 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated citrulline on newborn screening (NBS) or plasma amino acids.
Invitae Low Citrulline Panel
Invitae Low Citrulline Panel
Test code: 06123 • 10–21 days turnaround time
Genetic testing for genes that are associated with low citrulline on newborn screening (NBS) or plasma amino acids.
Invitae Elevated Glycine Panel (including Glycine Encephalopathy)
Invitae Elevated Glycine Panel (including Glycine Encephalopathy)
Test code: 06124 • 10–21 days turnaround time
Genetic testing for genes associated with elevated plasma and/or CSF glycine levels.
Invitae Elevated Leucine (MSUD) Panel
Invitae Elevated Leucine (MSUD) Panel
Test code: 06119 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated leucine and/or maple syrup urine disease (MSUD) on newborn screening (NBS) or plasma amino acid analysis.
Invitae Elevated Methionine Panel
Invitae Elevated Methionine Panel
Test code: 06125 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevated levels of methionine on newborn screening (NBS) or plasma amino acid analysis.
Invitae Elevated Succinylacetone Test
Invitae Elevated Succinylacetone Test
Test code: 06122 • 10–21 days turnaround time
Genetic testing for the FAH gene, which is associated with elevated succinylacetone, the biochemical hallmark for tyrosinemia type I resulting from FAH deficiency.
Invitae Elevated Tyrosine (Tyrosinemia) Panel
Invitae Elevated Tyrosine (Tyrosinemia) Panel
Test code: 06126 • 10–21 days turnaround time
Genetic testing for genes that are associated with elevations of tyrosine on newborn screening (NBS) or plasma amino acid analysis.
Invitae Alkaptonuria Test
Invitae Alkaptonuria Test
Test code: 06140 • 10–21 days turnaround time
Genetic testing for HGD gene, the only gene associated with alkaptonuria (AKU), which causes characteristic dark colored urine as well as darkly pigmented connective tissue.
Invitae Methylmalonic Acidemia and Homocystinuria Panel
Invitae Methylmalonic Acidemia and Homocystinuria Panel
Test code: 06141 • 10–21 days turnaround time
Genetic testing for genes associated with isolated/combined methylmalonic acidemia and homocystinuria.
Invitae Cystinuria Panel
Invitae Cystinuria Panel
Test code: 06142 • 10–21 days turnaround time
Genetic testing for 3 genes associated with cystinuria, a condition that is characterized by a predisposition to developing cystine stones in the kidneys, bladder, and ureters.
Invitae Hypoglycemia Panel
Invitae Hypoglycemia Panel
Test code: 98006 • 10–21 days turnaround time
Genetic testing for genes associated with hypoglycemia.
Invitae Galactosemia Panel
Invitae Galactosemia Panel
Test code: 06152 • 10–21 days turnaround time
Genetic testing for genes that are associated with galactosemia, which can cause hepatomegaly, jaundice, neonatal sepsis, cataracts, and elevated galactose metabolites.
Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test
Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test
Test code: 06153 • 10–21 days turnaround time
Genetic testing for the G6PD gene, which is associated with glucose-6-phosphate dehydrogenase deficiency and low levels of the G6PD enzyme.
Invitae Comprehensive Glycogen Storage Disease Panel
Invitae Comprehensive Glycogen Storage Disease Panel
Test code: 06156 • 10–21 days turnaround time
Genetic testing for genes associated with glycogen storage disease (GSD).
Invitae Hereditary Fructose Intolerance Test
Invitae Hereditary Fructose Intolerance Test
Test code: 06159 • 10–21 days turnaround time
Genetic testing for the ALDOB gene which is associated with hereditary fructose intolerance (HFI).
Invitae Rare Carbohydrate Disorders Panel
Invitae Rare Carbohydrate Disorders Panel
Test code: 06160 • 10–21 days turnaround time
Genetic testing for the FBP1 and SLC5A1 genes, which are associated with the rare carbohydrate disorders, fructose-1,6-bisphosphatase deficiency and glucose-galactose malabsorption, respectively.
Invitae Congenital Disorders of Glycosylation Panel
Invitae Congenital Disorders of Glycosylation Panel
Test code: 06155 • 10–21 days turnaround time
Genetic testing for genes associated with congenital disorders of glycosylation (CDGs).
Invitae Fatty Acid Oxidation Defects Panel
Invitae Fatty Acid Oxidation Defects Panel
Test code: 06165 • 10–21 days turnaround time
Genetic testing for genes that are associated with fatty acid oxidation defects (FAODs) – disorders in the fatty acid oxidation pathway.
Invitae Ketolysis Disorders Panel
Invitae Ketolysis Disorders Panel
Test code: 06169 • 10–21 days turnaround time
Genetic testing for genes associated with ketolysis disorders, conditions that impair the ability to metabolize ketones.
Invitae Gaucher Common Variants Test
Invitae Gaucher Common Variants Test
Test code: 06000 • 10–21 days turnaround time
Genetic testing for the most common 19 variants associated with Gaucher disease.
Invitae Comprehensive Lysosomal Storage Disorders Panel
Invitae Comprehensive Lysosomal Storage Disorders Panel
Test code: 06170 • 10–21 days turnaround time
Genetic testing for genes associated with lysosomal storage disorders (LSD).
Primary panel (58 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Cystinosis Test
Invitae Cystinosis Test
Test code: 06172 • 10–21 days turnaround time
Genetic testing for the CTNS gene which is associated with cystinosis; a lysosomal storage disorder typically associated with renal Fanconi syndrome and corneal cystine crystals.
Invitae Fabry Disease Test
Invitae Fabry Disease Test
Test code: 02266 • 10–21 days turnaround time
Genetic testing for the gene GLA which causes Fabry disease, featuring renal, cardiovascular, and cardiac disease, skin or ocular symptoms, and peripheral pain.
Invitae Farber Lipogranulomatosis Test
Invitae Farber Lipogranulomatosis Test
Test code: 06179 • 10–21 days turnaround time
Genetic testing for the ASAH1 gene which is associated with Farber lipogranulomatosis.
Invitae GM2 Gangliosidosis Panel
Invitae GM2 Gangliosidosis Panel
Test code: 06180 • 10–21 days turnaround time
Genetic testing of 3 genes associated with the GM2-gangliosidoses.
Invitae Krabbe Disease Test
Invitae Krabbe Disease Test
Test code: 06173 • 10–21 days turnaround time
Genetic testing for the GALC gene, which is associated with Krabbe disease, a result of galactocerebrosidase deficiency.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Lysosomal Acid Lipase Deficiency Test
Invitae Lysosomal Acid Lipase Deficiency Test
Test code: 06181 • 10–21 days turnaround time
Genetic testing for the LIPA gene in which pathogenic variants results in lysosomal acid lipase (LAL) deficiency and causes cholesteryl ester storage disease (CESD) and Wolman disease (WD).
Invitae Metachromatic Leukodystrophy Panel
Invitae Metachromatic Leukodystrophy Panel
Test code: 06174 • 10–21 days turnaround time
Genetic testing of genes associated with metachromatic leukodystrophy (MLD).
Invitae Mucopolysaccharidoses Plus (MPS+) Panel
Invitae Mucopolysaccharidoses Plus (MPS+) Panel
Test code: 06185 • 10–21 days turnaround time
Genetic testing for genes associated with mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses.
Invitae Neuronal Ceroid Lipofuscinoses Panel
Invitae Neuronal Ceroid Lipofuscinoses Panel
Test code: 03405 • 10–21 days turnaround time
Genetic testing for genes that are associated with neuronal ceroid lipofuscinoses (NCL), also known as Batten disease.
Primary panel (10 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Niemann-Pick Disease Types A and B Panel
Invitae Niemann-Pick Disease Types A and B Panel
Test code: 06190 • 10–21 days turnaround time
Genetic testing for the SMPD1 gene, which is associated with Niemann-Pick disease types A and B (NPA, NPB).
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Niemann-Pick Disease Type C Panel
Invitae Niemann-Pick Disease Type C Panel
Test code: 06176 • 10–21 days turnaround time
Genetic testing for genes that are associated with Niemann-Pick, type C (NPC), a neurovisceral lysosomal storage disease of impaired lipid trafficking.
Primary panel (2 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Pompe Disease Test
Invitae Pompe Disease Test
Test code: 06177 • 10–21 days turnaround time
Genetic testing for the gene GAA, which is associated with Pompe disease (also called glycogen storage disease, type II [GSD II]).
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Sandhoff Disease Test
Invitae Sandhoff Disease Test
Test code: 06178 • 10–21 days turnaround time
Genetic testing for the HEXB gene, which is associated with Sandhoff disease.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Tay-Sachs Disease Test
Invitae Tay-Sachs Disease Test
Test code: 04719 • 10–21 days turnaround time
Genetic testing for HEXA, the only gene known to be associated with Tay-Sachs disease (TSD).
Invitae Neurodegeneration with Brain Iron Accumulation Panel
Invitae Neurodegeneration with Brain Iron Accumulation Panel
Test code: 03406 • 10–21 days turnaround time
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited conditions that are characterized by abnormal iron deposits in the brain that manifest as a movement disorder with varying degrees of intellectual disability.
Invitae Copper Metabolism Disorders Panel
Invitae Copper Metabolism Disorders Panel
Test code: 06202 • 10–21 days turnaround time
Genetic testing for genes associated with disorders of copper transport and metabolism.
Invitae Wilson Disease Test
Invitae Wilson Disease Test
Test code: 06183 • 10–21 days turnaround time
Genetic testing for the ATP7B gene, which is associated Wilson disease, a disorder characterized by liver disease, neurologic (movement) disorders, psychiatric symptoms, hemolytic anemia, low serum copper and ceruloplasmin, and high urine copper excretion.
Invitae Organic Acidemias Panel
Invitae Organic Acidemias Panel
Test code: 06191 • 10–21 days turnaround time
Genetic testing for genes associated with organic acidemia.
Invitae 3-Methylcrotonyl-CoA Carboxylase Panel
Invitae 3-Methylcrotonyl-CoA Carboxylase Panel
Test code: 06192 • 10–21 days turnaround time
Genetic testing for two genes that are associated with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency.
Invitae Biotinidase Deficiency Test
Invitae Biotinidase Deficiency Test
Test code: 06194 • 10–21 days turnaround time
Genetic testing for the BTD gene, which is associated with biotinidase deficiency—a condition that is characterized seizures, hypotonia, alopecia, and eczema.
Invitae Propionic Acidemia Panel
Invitae Propionic Acidemia Panel
Test code: 06199 • 10–21 days turnaround time
Genetic testing for genes that are associated with propionic acidemia (PPA), an organic acidemia that causes metabolic acidosis with encephalopathy and often results in neurologic impairment and possible cardiomyopathy.
Invitae Urea Cycle Disorders Panel
Invitae Urea Cycle Disorders Panel
Test code: 06212 • 10–21 days turnaround time
Genetic testing for up to 15 genes that encode the enzymes and transporter proteins involved in the biochemical reactions of the urea cycle.
Primary panel (10 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Ornithine Transcarbamylase (OTC) Deficiency Test
Invitae Ornithine Transcarbamylase (OTC) Deficiency Test
Test code: 06225 • 10–21 days turnaround time
Genetic testing for the OTC gene which is associated with ornithine transcarbamylase (OTC) deficiency, the most common urea cycle defect.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Cerebral Creatine Deficiency Panel
Invitae Cerebral Creatine Deficiency Panel
Test code: 06162 • 10–21 days turnaround time
Genetic testing for three genes that are associated with creatine biosynthesis or transport.
Invitae Cerebrotendinous Xanthomatosis Test
Invitae Cerebrotendinous Xanthomatosis Test
Test code: 06161 • 10–21 days turnaround time
Genetic testing for the CYP27A1 gene, which is associated with cerebrotendinous xanthomatosis (CTX), a result of a deficiency in cholesterol homeostasis.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Treatable Neurometabolic Disorders Panel
Invitae Treatable Neurometabolic Disorders Panel
Test code: 06222 • 10–21 days turnaround time
Genetic testing for genes that are associated with treatable inherited neurometabolic disorders.
Invitae Comprehensive Neurometabolic Disorders Panel
Invitae Comprehensive Neurometabolic Disorders Panel
Test code: 98005 • 10–21 days turnaround time
Genetic testing for genes associated with neurometabolic disorders.
Invitae Neurotransmitter Disorders Panel
Invitae Neurotransmitter Disorders Panel
Test code: 06203 • 10–21 days turnaround time
Genetic testing for genes that are associated with inherited neurotransmitter disorders.
Invitae Hereditary Hyperekplexia Panel
Invitae Hereditary Hyperekplexia Panel
Test code: 06204 • 10–21 days turnaround time
Genetic testing for genes associated with hereditary hyperekplexia (HKPX).
Invitae Adult Refsum Disease Panel
Invitae Adult Refsum Disease Panel
Test code: 06207 • 10–21 days turnaround time
Genetic testing for the PHYH and PEX7 genes which are associated with adult Refsum disease, a peroxisomal disorder typically associated by accumulation of phytanic acid and clinical findings including retinitis pigmentosa, anosomia, neuropathy and ataxia.
Invitae Zellweger Spectrum Disorder Panel
Invitae Zellweger Spectrum Disorder Panel
Test code: 06211 • 10–21 days turnaround time
Genetic testing for genes associated with Zellweger Spectrum disorders (ZSD).
Invitae Purine Metabolism Disorders Panel
Invitae Purine Metabolism Disorders Panel
Test code: 06213 • 10–21 days turnaround time
Genetic testing for genes that are associated with disorders of purine metabolism.
Invitae Pyruvate Metabolism and Related Disorders Panel
Invitae Pyruvate Metabolism and Related Disorders Panel
Test code: 98004 • 10–21 days turnaround time
Genetic testing for genes associated with disorders of pyruvate metabolism.
Invitae Crigler Najjar and Gilbert Syndrome Test
Invitae Crigler Najjar and Gilbert Syndrome Test
Test code: 06003 • 10–21 days turnaround time
Genetic testing for UGT1A1, which is associated with Crigler Najjar and Gilbert Syndrome.
Invitae Alpha-1 Antitrypsin Deficiency Test
Invitae Alpha-1 Antitrypsin Deficiency Test
Test code: 55000 • 10–21 days turnaround time
The Invitae Alpha-1 Antitrypsin Deficiency Test analyzes the SERPINA1 gene which is associated with a heterogeneous condition that manifests with hepatic dysfunction in infants through adulthood and with chronic obstructive lung disease in adults.
Invitae Monogenic Diabetes Panel
Invitae Monogenic Diabetes Panel
Test code: 55001 • 10–21 days turnaround time
Genetic testing for genes associated with syndromic and nonsyndromic causes of monogenic diabetes.
Invitae Acute Hepatic Porphyrias Panel
Invitae Acute Hepatic Porphyrias Panel
Test code: 06226 • 10–21 days turnaround time
Genetic testing for up to 4 genes associated with acute hepatic porphyrias.
Invitae Comprehensive Porphyrias Panel
Invitae Comprehensive Porphyrias Panel
Test code: 55003 • 10–21 days turnaround time
The Invitae Comprehensive Porphyrias Panel analyzes the genes associated with the porphyrias, a heterogeneous group of disorders caused by abnormal heme production.
Invitae Cholestasis Panel
Invitae Cholestasis Panel
Test code: 06001 • 10–21 days turnaround time
Genetic testing for genes associated with isolated or syndromic cholestasis.
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Test code: 55002 • 10–21 days turnaround time
Genetic testing for genes associated with leukodystrophy or genetic leukoencephalopathy.
Primary panel (697 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Cerebral Palsy Spectrum Disorders Panel
Invitae Cerebral Palsy Spectrum Disorders Panel
Test code: 55004 • 10–21 days turnaround time
The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP).
Invitae Monogenic Obesity Panel
Invitae Monogenic Obesity Panel
Test code: 98001 • 10–21 days turnaround time
Genetic testing for genes associated with monogenic obesity.
Invitae Hyperammonemia Panel
Invitae Hyperammonemia Panel
Test code: 06230 • 10–21 days turnaround time
Genetic testing for genes that are associated with hyperammonemia.
Invitae Mendelian Disorders with Psychiatric Symptoms Panel
Invitae Mendelian Disorders with Psychiatric Symptoms Panel
Test code: 06228 • 10–21 days turnaround time
Genetic testing for genes associated with Mendelian (single gene) disorders with psychiatric symptoms.
Primary panel (167 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Metabolic Non-Immune Fetal Hydrops Panel
Invitae Metabolic Non-Immune Fetal Hydrops Panel
Test code: 06229 • 10–21 days turnaround time
Genetic testing for up to 53 genes that are associated with metabolic causes of non-immune fetal hydrops.
Primary panel (51 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Nuclear Mitochondrial Disorders Panel
Invitae Nuclear Mitochondrial Disorders Panel
Test code: 98002 • 10–21 days turnaround time
Genetic testing for nuclear genes associated with mitochondrial disorders.
Invitae Primary Hyperoxaluria Panel
Invitae Primary Hyperoxaluria Panel
Test code: 06227 • 10–21 days turnaround time
Genetic testing for 3 genes associated with primary hyperoxaluria.
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel
Test code: 04307 • 10–21 days turnaround time
The Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel analyzes genes that are associated with disorders causing microcephalic primordial dwarfism and Seckel syndrome. These are genetically heterogeneous disorders characterized primarily by microcephaly and short stature.
Invitae Adams-Oliver Syndrome Panel
Invitae Adams-Oliver Syndrome Panel
Test code: 434342 • 10–21 days turnaround time
The Invitae Adams-Oliver Syndrome Panel analyzes genes that are associated with Adams-Oliver syndrome, scalp-ear-nipple syndrome, and Johanson-Blizzard syndrome, which are characterized by cutis aplasia of the scalp and various other abnormalities including limb defects and/or congenital heart defects. These genes were selected based on the available evidence to date to provide a broad analysis for Adams-Oliver and related conditions.
Invitae Spondylocostal Dysostosis Panel
Invitae Spondylocostal Dysostosis Panel
Test code: 434350 • 10–21 days turnaround time
The Invitae Spondylocostal Dysostosis Panel analyzes genes that are associated with disorders causing spondylocostal dysostosis. These are genetically heterogeneous disorders characterized primarily by a combination of rib and vertebral anomalies. These genes were selected based on the available evidence to date to provide a broad analysis for inherited spondylocostal dysostosis.
Invitae Limb and Digital Malformations Panel
Invitae Limb and Digital Malformations Panel
Test code: 55010 • 10–21 days turnaround time
The Invitae Limb and Digital Malformations Panel analyzes genes that are associated with conditions affecting the limbs and/or digits. These are genetically heterogeneous disorders characterized by abnormal limb and/or digit development or growth. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.
Invitae Stickler Syndrome Panel
Invitae Stickler Syndrome Panel
Test code: 55013 • 10–21 days turnaround time
Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.
Invitae X-Linked Hypophosphatemia Test
Invitae X-Linked Hypophosphatemia Test
Test code: 72038 • 10–21 days turnaround time
The Invitae X-Linked Hypophosphatemia Test analyzes the PHEX gene, which is associated with the most common genetic form of hypophosphatemia.
Invitae Hypophosphatemia Panel
Invitae Hypophosphatemia Panel
Test code: 72039 • 10–21 days turnaround time
The genetic forms of hypophosphatemia are heterogeneous conditions which are characterized by abnormal phosphate levels leading to abnormal growth of bones and teeth.
Invitae Skeletal Disorders Panel
Invitae Skeletal Disorders Panel
Test code: 89100 • 10–21 days turnaround time
The Invitae Skeletal Disorders Panel analyzes genes that are associated with conditions affecting the skeletal system. These are genetically heterogeneous disorders characterized by abnormal bone or cartilage development or growth.
Invitae Antley-Bixler Syndrome Test
Invitae Antley-Bixler Syndrome Test
Test code: 04612 • 10–21 days turnaround time
Genetic testing for the POR gene which is associated with Antley-Bixler syndrome (ABS), a condition that is characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, and joint contractures as well as genitourinary anomalies and impaired steroidogenesis.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae ARSE-Related Chondrodysplasia Punctata Test
Invitae ARSE-Related Chondrodysplasia Punctata Test
Test code: 04726 • 10–21 days turnaround time
Genetic testing for ARSE, which is associated with chondrodysplasia punctata (CDP), a bone-and-cartilage-development disorder.
Primary panel (1 gene)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Campomelic Dysplasia Test
Invitae Campomelic Dysplasia Test
Test code: 04712 • 10–21 days turnaround time
Genetic testing for SOX9, the gene associated with campomelic dysplasia (CD).
Invitae Craniosynostosis Panel
Invitae Craniosynostosis Panel
Test code: 04423 • 10–21 days turnaround time
The Invitae Craniosynostosis Panel analyzes genes that are associated with syndromic and nonsyndromic craniosynostosis. These conditions are characterized by early fusion of one or more sutures in the skull, which is accompanied by additional features in syndromic forms. These genes were selected based on the available evidence to date to provide a broad analysis for inherited craniosynostosis.
Primary panel (65 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel
Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel
Test code: 04613 • 10–21 days turnaround time
Genetic testing for two genes which are associated with Ellis-van Creveld (EvC) and Weyers acrofacial dysostosis (WAD), which are characterized by variable developmental defects involving the skeletal system, ectoderm, and cardiovascular system.
Invitae Hereditary Multiple Osteochondromas Panel
Invitae Hereditary Multiple Osteochondromas Panel
Test code: 04614 • 10–21 days turnaround time
Genetic testing for the EXT1 and EXT2 genes that are associated with hereditary multiple osteochondromas (HMO), a condition that is characterized primarily by multiple cartilage-capped bone growths, known as osteochondromas or osteocartilaginous exostoses.
Primary panel (2 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Osteogenesis Imperfecta and Bone Fragility Panel
Invitae Osteogenesis Imperfecta and Bone Fragility Panel
Test code: 04732 • 10–21 days turnaround time
The Invitae Osteogenesis Imperfecta and Bone Fragility Panel analyzes genes that are associated with bone fragility disorders, including but not limited to osteogenesis imperfecta, osteopetrosis, and rickets. These genes were selected based on the available evidence to date to provide a broad analysis for inherited osteogenesis imperfecta.
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel
Test code: 04103 • 10–21 days turnaround time
The Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel analyzes genes that are associated with disorders causing skeletal dysplasia often resulting in perinatal death, which are characterized by abnormal growth and skeletal development.
Invitae Trichorhinophalangeal Syndrome Panel
Invitae Trichorhinophalangeal Syndrome Panel
Test code: 04617 • 10–21 days turnaround time
Genetic testing for the TRPS1 and EXT1 genes that are associated with trichorhinophalangeal syndrome (TRPS), a condition that is characterized primarily by short stature, cone-shaped epiphyses, brachydactyly, and sparse hair. Contiguous deletions of the TRPS1 and EXT1 genes cause TRPS type 2, also known as Langer-Giedion syndrome, which is characterized by multiple osteochondromas and distinctive facial and skeletal features.