Resource Guide
Genetic Metabolic Disorder Testing
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Genetic Metabolic Disorder Testing
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Genetic Metabolic Disorder Testing
Diagnosis Codes
Genetic Metabolic Disorder Testing
Diagnosis Codes Listed For Convenience Only
❑ E72.00 Disorders of amino-acid transport, unspecified
❑ E72.01 Cystinuria
❑ E72.02 Hartnup's disease
❑ E72.03 Lowe's syndrome
❑ E72.04 Cystinosis
❑ E72.09 Other disorders of amino-acid transport
❑ E72.10 Disorders of sulfur-bearing amino-acid metabolism, unspecified
❑ E72.11 Homocystinuria
❑ E72.12 Methylenetetrahydrofolate reductase deficiency
❑ E72.19 Other disorders of sulfur-bearing amino-acid metabolism
❑ E72.20 Disorder of urea cycle metabolism, unspecified
❑ E72.21 Argininemia
❑ E72.22 Arginosuccinic aciduria
❑ E72.23 Citrullinemia
❑ E72.29 Other disorders of urea cycle metabolism
❑ E72.3 Disorders of lysine and hydroxylysine metabolism
❑ E72.4 Disorders of ornithine metabolism
❑ E72.50 Disorder of glycine metabolism, unspecified
❑ E72.51 Non-ketotic hyperglycinemia
❑ E72.52 Trimethylaminuria
❑ E72.53 Primary hyperoxaluria
❑ E72.59 Other disorders of glycine metabolism
❑ E72.81 Disorders of gamma aminobutyric acid metabolism
❑ E72.89 Other specified disorders of amino-acid metabolism
❑ E72.9 Disorder of amino-acid metabolism, unspecified
❑ E73.0 Congenital lactase deficiency
❑ E73.1 Secondary lactase deficiency
❑ E73.8 Other lactose intolerance
❑ E73.9 Lactose intolerance, unspecified
❑ E74.00 Glycogen storage disease, unspecified
❑ E74.01 von Gierke disease
❑ E74.02 Pompe disease
❑ E74.03 Cori disease
❑ E74.04 McArdle disease
❑ E74.09 Other glycogen storage disease
❑ E74.10 Disorder of fructose metabolism, unspecified
❑ E74.11 Essential fructosuria
❑ E74.12 Hereditary fructose intolerance
❑ E74.19 Other disorders of fructose metabolism
❑ E74.20 Disorders of galactose metabolism, unspecified
❑ E74.21 Galactosemia
❑ E74.29 Other disorders of galactose metabolism
❑ E74.31 Sucrase-isomaltase deficiency
❑ E74.39 Other disorders of intestinal carbohydrate absorption
❑ E74.4 Disorders of pyruvate metabolism and gluconeogenesis
❑ E74.810 Glucose transporter protein type 1 deficiency
❑ E74.818 Other disorders of glucose transport
❑ E74.819 Disorders of glucose transport, unsp
❑ E74.89 Other specified disorders of carbohydrate metabolism
❑ E74.9 Disorder of carbohydrate metabolism, unspecified
❑ E75.00 GM2 gangliosidosis, unspecified
❑ E75.01 Sandhoff disease
❑ E75.02 Tay-Sachs disease
❑ E75.09 Other GM2 gangliosidosis
❑ E75.10 Unspecified gangliosidosis
❑ E75.11 Mucolipidosis IV
❑ E75.19 Other gangliosidosis
❑ E75.21 Fabry (-Anderson) disease
❑ E75.22 Gaucher disease
❑ E75.23 Krabbe disease
❑ E75.25 Metachromatic leukodystrophy
❑ E75.26 Sulfatase deficiency
❑ E75.29 Other sphingolipidosis
❑ E75.3 Sphingolipidosis, unspecified
❑ E75.4 Neuronal ceroid lipofuscinosis
❑ E75.5 Other lipid storage disorders
❑ E75.6 Lipid storage disorder, unspecified
❑ E76.01 Hurler's syndrome
❑ E76.02 Hurler-Scheie syndrome
❑ E76.03 Scheie's syndrome
❑ E76.1 Mucopolysaccharidosis, type II
❑ E76.210 Morquio A mucopolysaccharidoses
❑ E76.211 Morquio B mucopolysaccharidoses
❑ E76.219 Morquio mucopolysaccharidoses, unspecified
❑ E76.22 Sanfilippo mucopolysaccharidoses
❑ E76.29 Other mucopolysaccharidoses
❑ E76.3 Mucopolysaccharidosis, unspecified
❑ E76.8 Other disorders of glucosaminoglycan metabolism
❑ E76.9 Glucosaminoglycan metabolism disorder, unsp
❑ E77.0 Defects in post-translational mod of lysosomal enzymes
❑ E77.1 Defects in glycoprotein degradation
❑ E77.8 Other disorders of glycoprotein metabolism
❑ E77.9 Disorder of glycoprotein metabolism, unspecified
❑ E78.00 Pure hypercholesterolemia, unspecified
❑ E78.01 Familial hypercholesterolemia
❑ E78.1 Pure hyperglyceridemia
❑ E78.2 Mixed hyperlipidemia
❑ E78.3 Hyperchylomicronemia
❑ E78.41 Elevated Lipoprotein(a)
❑ E78.49 Other hyperlipidemia
❑ E78.5 Hyperlipidemia, unspecified
❑ E78.6 Lipoprotein deficiency
❑ E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
❑ E78.71 Barth syndrome
❑ E78.72 Smith-Lemli-Opitz syndrome
❑ E78.79 Other disorders of bile acid and cholesterol metabolism
❑ E78.81 Lipoid dermatoarthritis
❑ E78.89 Other lipoprotein metabolism disorders
❑ E78.9 Disorder of lipoprotein metabolism, unspecified
❑ E79.0 Hyperuricemia without signs of inflamed arthritis and tophaceous disease
❑ E79.1 Lesch-Nyhan syndrome
❑ E79.2 Myoadenylate deaminase deficiency
❑ E79.8 Other disorders of purine and pyrimidine metabolism
❑ E79.9 Disorder of purine and pyrimidine metabolism, unspecified
❑ E80.0 Hereditary erythropoietic porphyria
❑ E80.1 Porphyria cutanea tarda
❑ E80.20 Unspecified porphyria
❑ E80.21 Acute intermittent (hepatic) porphyria
❑ E80.29 Other porphyria
❑ E80.3 Defects of catalase and peroxidase
❑ E80.4 Gilbert syndrome
❑ E80.5 Crigler-Najjar syndrome
❑ E80.6 Other disorders of bilirubin metabolism
❑ E80.7 Disorder of bilirubin metabolism, unspecified
❑ E83.00 Disorder of copper metabolism, unspecified
❑ E83.01 Wilson's disease
❑ E83.09 Other disorders of copper metabolism
❑ E83.10 Disorder of iron metabolism, unspecified
❑ E83.110 Hereditary hemochromatosis
❑ E83.111 Hemochromatosis due to repeated red blood cell transfusions
❑ E83.118 Other hemochromatosis
❑ E83.119 Hemochromatosis, unspecified
❑ E83.19 Other disorders of iron metabolism
❑ E83.2 Disorders of zinc metabolism
❑ E83.30 Disorder of phosphorus metabolism, unspecified
❑ E83.31 Familial hypophosphatemia
❑ E83.32 Hereditary vitamin D-dependent rickets (type 1) (type 2)
❑ E83.39 Other disorders of phosphorus metabolism
❑ E83.40 Disorders of magnesium metabolism, unspecified
❑ E83.41 Hypermagnesemia
❑ E83.42 Hypomagnesemia
❑ E83.49 Other disorders of magnesium metabolism
❑ E83.50 Unsp disorder of calcium metabolism
❑ E83.51 Hypocalcemia
❑ E83.52 Hypercalcemia
❑ E83.59 Other disorders of calcium metabolism
❑ E83.81 Hungry bone syndrome
❑ E83.89 Other disorders of mineral metabolism
❑ E83.9 Disorder of mineral metabolism, unspecified
❑ E84.0 Cystic fibrosis with pulmonary manifestations
❑ E84.11 Meconium ileus in cystic fibrosis
❑ E84.19 Cystic fibrosis with other intestinal manifestations
❑ E84.8 Cystic fibrosis with other manifestations
❑ E84.9 Cystic fibrosis, unspecified
❑ E85.0 Non-neuropathic heredofamilial amyloidosis
❑ E85.1 Neuropathic heredofamilial amyloidosis
❑ E85.2 Heredofamilial amyloidosis, unspecified
❑ E85.3 Secondary systemic amyloidosis
❑ E85.4 Organ-limited amyloidosis
❑ E85.81 Light chain (AL) amyloidosis
❑ E85.82 Wild-type transthyretin-related (ATTR) amyloidosis
❑ E85.89 Other amyloidosis
❑ E85.9 Amyloidosis, unspecified
❑ E86.0 Dehydration
❑ E86.1 Hypovolemia
❑ E86.9 Volume depletion, unspecified
❑ E87.0 Hyperosmolality and hypernatremia
❑ E87.1 Hypo-osmolality and hyponatremia
❑ E87.20 Acidosis, unspecified
❑ E87.21 Acute metabolic acidosis
❑ E87.22 Chronic metabolic acidosis
❑ E87.29 Other acidosis
❑ E87.3 Alkalosis
❑ E87.4 Mixed disorder of acid-base balance
❑ E87.5 Hyperkalemia
❑ E87.6 Hypokalemia
❑ E87.70 Fluid overload, unspecified
❑ E87.71 Transfusion associated circulatory overload
❑ E87.79 Other fluid overload
❑ E87.8 Oth disorders of electrolyte and fluid balance, NEC
❑ E88.01 Alpha-1-antitrypsin deficiency
❑ E88.02 Plasminogen deficiency
❑ E88.09 Oth disorders of plasma-protein metabolism, NEC
❑ E88.1 Lipodystrophy, not elsewhere classified
❑ E88.2 Lipomatosis, not elsewhere classified
❑ E88.3 Tumor lysis syndrome
❑ E88.40 Mitochondrial metabolism disorder, unspecified
❑ E88.41 MELAS syndrome
❑ E88.42 MERRF syndrome
❑ E88.49 Other mitochondrial metabolism disorders
❑ E88.81 Metabolic syndrome
❑ E88.89 Other specified metabolic disorders
❑ E88.9 Metabolic disorder, unspecified