XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Hyperammonemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACAD93q21.3100%gene with protein product611103Autosomal recessive inheritance; Cerebral edema; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased plasma carnitine; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; EMG: myopathic abnormalities; Encephalopathy; Exercise intolerance; Failure to thrive; Fatigable weakness; Generalized hypotonia; Generalized muscle weakness; Hepatic failure; Hepatic steatosis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Increased lactate dehydrogenase activity; Increased serum lactate; Lactic acidosis; Microvesicular hepatic steatosis; Muscle weakness; Myalgia; Prolonged prothrombin time; Stroke; ThrombocytopeniaRhabdomyolysis
ARG16q23.2100%gene with protein product608313Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Diaminoaciduria; EEG abnormality; Global developmental delay; Hemiplegia/hemiparesis; Hyperactivity; Hyperammonemia; Intellectual disability; Intellectual disability, severe; Irritability; Neurological speech impairment; Oroticaciduria; Postnatal growth retardation; Progressive spastic quadriplegia; Seizures; Vomiting
ARG16q23.2100%gene with protein product608313Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Diaminoaciduria; EEG abnormality; Global developmental delay; Hemiplegia/hemiparesis; Hyperactivity; Hyperammonemia; Intellectual disability; Intellectual disability, severe; Irritability; Neurological speech impairment; Oroticaciduria; Postnatal growth retardation; Progressive spastic quadriplegia; Seizures; Vomiting
ASL7q11.21100%gene with protein product608310Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Dry hair; EEG abnormality; Episodic ammonia intoxication; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Protein avoidance; Respiratory alkalosis; Seizures; Short stature; Trichorrhexis nodosa; VomitingAutoimmune Disorders
ASL7q11.21100%gene with protein product608310Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Dry hair; EEG abnormality; Episodic ammonia intoxication; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Protein avoidance; Respiratory alkalosis; Seizures; Short stature; Trichorrhexis nodosa; VomitingAutoimmune Disorders
ASS19q34.11100%gene with protein product603470ASSAtaxia; Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Phenotypic variability; Protein avoidance; Respiratory alkalosis; Seizures; Vomiting
ATPAF217p11.2100%gene with protein product6089183-Methylglutaconic aciduria; Ataxia; Autosomal recessive inheritance; Cryptorchidism; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Infantile onset; Lactic acidosis; Low-set ears; Microcephaly; Prominent nasal bridge; Retrognathia; Short stature
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
CA5A16q24.299.97%gene with protein product114761CA5Autosomal recessive inheritance; Hyperalaninemia; Hyperammonemia; Hypoglycemia; Increased serum lactate; Ketoacidosis; Ketonuria; Lactic acidosis; Lethargy; Metabolic acidosis; Respiratory alkalosis; Tachypnea; Variable expressivity
CAD2p23.3100%gene with protein product114010Acanthocytosis; Anemia; Anisopoikilocytosis; Autosomal recessive inheritance; Broad-based gait; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hyperammonemia; Infantile onset; Poor speech; Progressive; Renal tubular acidosis; Schistocytosis; Status epilepticusEctodermal Dysplasia ; Rhabdomyolysis
CPS12q34100%gene with protein product608307Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hyperammonemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Muscular hypotonia; Protein avoidance; Respiratory alkalosis; Respiratory insufficiency; Seizures; Vomiting
CPS12q34100%gene with protein product608307Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hyperammonemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Muscular hypotonia; Protein avoidance; Respiratory alkalosis; Respiratory insufficiency; Seizures; Vomiting
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CYC18q24.3100%gene with protein product123980Acute hepatic failure; Autosomal recessive inheritance; Elevated hepatic transaminases; Episodic ketoacidosis; Hyperammonemia; Increased serum lactate; Ketoacidosis; Lactic acidosis
GLUL1q25.3100%gene with protein product138290GLNSApnea; Autosomal recessive inheritance; Bradycardia; Brain atrophy; CNS hypomyelination; Depressed nasal bridge; Encephalopathy; Generalized hypotonia; Hyperammonemia; Hyperreflexia; Hypoplasia of the corpus callosum; Low-set ears; Periventricular cysts; Respiratory insufficiency; Seizures; Severe global developmental delay; Skin rash; Subependymal cysts; Ventriculomegaly; Wide nasal bridge
HADHA2p23.399.99%gene with protein product600890Abnormal electroretinogram; Abnormality of the amniotic fluid; Autosomal recessive inheritance; Cardiomyopathy; Congestive heart failure; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Dilated cardiomyopathy; Elevated hepatic transaminases; Exotropia; Failure to thrive; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Hepatomegaly; Hydrops fetalis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Hypoketotic hypoglycemia; Lactic acidosis; Muscular hypotonia; Myalgia; Myoglobinuria; Peripheral neuropathy; Photophobia; Pigmentary retinopathy; Prenatal maternal abnormality; Respiratory failure; Rhabdomyolysis; Small for gestational age; Sudden death; Visual lossRhabdomyolysis
HADHB2p23.399.92%gene with protein product143450Abnormality of the amniotic fluid; Autosomal recessive inheritance; Congestive heart failure; Dilated cardiomyopathy; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Hydrops fetalis; Hyperammonemia; Hypoketotic hypoglycemia; Lactic acidosis; Myalgia; Myoglobinuria; Peripheral neuropathy; Prenatal maternal abnormality; Respiratory failure; Rhabdomyolysis; Small for gestational ageRhabdomyolysis
HLCS21q22.13100%gene with protein product609018Alopecia; Anorexia; Autosomal recessive inheritance; Coma; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hyperammonemia; Hypertonia; Hyperventilation; Irritability; Keratoconjunctivitis; Lethargy; Metabolic acidosis; Muscular hypotonia; Nausea and vomiting; Organic aciduria; Perioral eczema; Respiratory distress; Seizures; Skin rash; Tachypnea; Thrombocytopenia; Vomiting; Weight loss
HLCS21q22.13100%gene with protein product609018Alopecia; Anorexia; Autosomal recessive inheritance; Coma; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hyperammonemia; Hypertonia; Hyperventilation; Irritability; Keratoconjunctivitis; Lethargy; Metabolic acidosis; Muscular hypotonia; Nausea and vomiting; Organic aciduria; Perioral eczema; Respiratory distress; Seizures; Skin rash; Tachypnea; Thrombocytopenia; Vomiting; Weight loss
HMGCL1p36.1199.96%gene with protein product6138983-Methylglutaric aciduria; Autosomal recessive inheritance; Coma; Death in childhood; Decreased plasma carnitine; Excessive daytime somnolence; Fever; Glutaric aciduria; Hepatomegaly; Hyperammonemia; Hypoglycemia; Increased level of 3-hydroxy-3-methylglutaric acid in urine; Increased level of hippuric acid in urine; Metabolic acidosis
MCCC13q27.1100%gene with protein product609010Abnormality of leucine metabolism; Abnormality of movement; Acute hepatic steatosis; Acute hyperammonemia; Autosomal recessive inheritance; Coma; Episodic metabolic acidosis; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketonuria; Lethargy; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Seizures; Vomiting
MCCC25q13.2100%gene with protein product609014Abnormality of leucine metabolism; Abnormality of movement; Acute hyperammonemia; Alopecia; Autosomal recessive inheritance; Coma; Failure to thrive; Failure to thrive in infancy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperglycinuria; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketoacidosis; Lethargy; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Propionyl-CoA carboxylase deficiency; Seborrheic dermatitis; Seizures; Skeletal muscle atrophy; Vomiting
MMAA4q31.21100%gene with protein product607481Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Infantile onset; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neutropenia; Pancytopenia; Respiratory distress; Seizures; Thrombocytopenia; Tremor; Vomiting
MMAB12q24.1199.93%gene with protein product607568Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neonatal onset; Neutropenia; Pancytopenia; Respiratory distress; Thrombocytopenia; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
NAGS17q21.31100%gene with protein product608300Aggressive behavior; Autosomal recessive inheritance; Cognitive impairment; Coma; Confusion; Failure to thrive; Hyperammonemia; Increased level of L-glutamic acid in blood; Lethargy; Respiratory distress; Seizures; Vomiting
NR1H412q23.199.89%gene with protein product603826Autosomal recessive inheritance; Cirrhosis; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hyperammonemia; Hypoglycemia; Jaundice; Prolonged prothrombin time; Rapidly progressive
OTCXp11.499.65%gene with protein product300461Aminoaciduria; Cerebral edema; Coma; Episodic ammonia intoxication; Episodic ataxia; Failure to thrive; Global developmental delay; Hepatic failure; Hyperammonemia; Hyperglutaminemia; Hypoglycemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Protein avoidance; Pyloric stenosis; Respiratory alkalosis; Seizures; Splenomegaly; Vomiting; X-linked recessive inheritanceVACTERL Association
OTCXp11.499.65%gene with protein product300461Aminoaciduria; Cerebral edema; Coma; Episodic ammonia intoxication; Episodic ataxia; Failure to thrive; Global developmental delay; Hepatic failure; Hyperammonemia; Hyperglutaminemia; Hypoglycemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Protein avoidance; Pyloric stenosis; Respiratory alkalosis; Seizures; Splenomegaly; Vomiting; X-linked recessive inheritanceVACTERL Association
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
SERAC16q25.399.79%gene with protein product6147253-Methylglutaconic aciduria; Abnormality of extrapyramidal motor function; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Brain atrophy; Cerebellar atrophy; Developmental regression; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperammonemia; Hypoglycemia; Increased serum lactate; Intellectual disability; Lactic acidosis; Neonatal sepsis; Recurrent infections; Sensorineural hearing impairment; Spasticity
SLC22A55q31.1100%gene with protein product603377CDSPAcute encephalopathy; Autosomal recessive inheritance; Cardiomegaly; Clumsiness; Coma; Confusion; Congestive heart failure; Decreased carnitine level in liver; Decreased plasma carnitine; Elevated hepatic transaminases; Encephalopathy; Endocardial fibroelastosis; Excessive daytime somnolence; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures with focal onset; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Impaired gluconeogenesis; Lethargy; Muscle weakness; Myopathy; Neck muscle weakness; Recurrent hypoglycemia; Reduced muscle carnitine level; VomitingRhabdomyolysis
SLC25A137q21.3100%gene with protein product603859CTLN2Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Confusion; Decreased circulating high-density lipoprotein levels; Elevated hepatic transaminases; Elevated plasma citrulline; Failure to thrive; Growth delay; Hepatic steatosis; Hepatocellular carcinoma; Hyperammonemia; Hyperbilirubinemia; Hypercholesterolemia; Hypermethioninemia; Hypertriglyceridemia; Intrahepatic cholestasis; Pancreatitis
SLC25A1513q14.11100%gene with protein product603861ORNT1, HHHAbnormal pyramidal signs; Acute encephalopathy; Acute hepatitis; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Coma; Decreased liver function; Decreased nerve conduction velocity; Episodic vomiting; Failure to thrive; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperornithinemia; Hypopigmentation of the fundus; Impaired vibratory sensation; Intellectual disability; Lethargy; Morphological abnormality of the pyramidal tract; Phenotypic variability; Poor coordination; Protein avoidance; Spastic paraparesis; Specific learning disability
SLC25A203p21.31100%gene with protein product613698CACTAbnormality of skeletal muscles; Atrioventricular block; Autosomal recessive inheritance; Bradycardia; Cardiomyopathy; Cardiorespiratory arrest; Coma; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Encephalopathy; Fasting hypoglycemia; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypotension; Irritability; Lethargy; Muscle weakness; Respiratory insufficiency; Rhabdomyolysis; Seizures; Ventricular extrasystoles; Ventricular hypertrophy; Ventricular tachycardiaRhabdomyolysis
SLC25A203p21.31100%gene with protein product613698CACTAbnormality of skeletal muscles; Atrioventricular block; Autosomal recessive inheritance; Bradycardia; Cardiomyopathy; Cardiorespiratory arrest; Coma; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Encephalopathy; Fasting hypoglycemia; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypotension; Irritability; Lethargy; Muscle weakness; Respiratory insufficiency; Rhabdomyolysis; Seizures; Ventricular extrasystoles; Ventricular hypertrophy; Ventricular tachycardiaRhabdomyolysis
SLC7A714q11.2100%gene with protein product603593LPIAlveolar proteinosis; Aminoaciduria; Anemia; Autosomal recessive inheritance; Cutis laxa; Delayed skeletal maturation; Diarrhea; Failure to thrive; Fine hair; Generalized hypotonia; Hemophagocytosis; Hepatomegaly; Hyperammonemia; Hyperextensible skin; Increased serum ferritin; Infantile onset; Leukopenia; Malnutrition; Muscle weakness; Nausea; Oroticaciduria; Osteoporosis; Pancreatitis; Phenotypic variability; Pulmonary hemorrhage; Recurrent fractures; Respiratory insufficiency; Short stature; Skeletal muscle atrophy; Sparse hair; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Truncal obesity; VomitingAutoimmune Disorders
TMEM708q21.11100%gene with protein product6124183-Methylglutaconic aciduria; Abnormal aortic valve morphology; Abnormal pulmonary valve morphology; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arrhythmia; Ataxia; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral cortical atrophy; Congenital onset; Congestive heart failure; Cryptorchidism; Death in infancy; Encephalitis; Encephalopathy; Failure to thrive; Flat face; Flat occiput; Gastroparesis; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperalaninemia; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Inguinal hernia; Intellectual disability, moderate; Intrauterine growth retardation; Lactic acidosis; Leukoencephalopathy; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Moderate global developmental delay; Muscular hypotonia; Oligohydramnios; Premature birth; Respiratory failure; Respiratory insufficiency; Retrognathia; Short philtrum; Small for gestational age; Tremor; Umbilical hernia; Wide mouth; Wide nasal bridge
TMEM708q21.11100%gene with protein product6124183-Methylglutaconic aciduria; Abnormal aortic valve morphology; Abnormal pulmonary valve morphology; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arrhythmia; Ataxia; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral cortical atrophy; Congenital onset; Congestive heart failure; Cryptorchidism; Death in infancy; Encephalitis; Encephalopathy; Failure to thrive; Flat face; Flat occiput; Gastroparesis; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperalaninemia; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Inguinal hernia; Intellectual disability, moderate; Intrauterine growth retardation; Lactic acidosis; Leukoencephalopathy; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Moderate global developmental delay; Muscular hypotonia; Oligohydramnios; Premature birth; Respiratory failure; Respiratory insufficiency; Retrognathia; Short philtrum; Small for gestational age; Tremor; Umbilical hernia; Wide mouth; Wide nasal bridge
TUFM16p11.2100%gene with protein product602389Autosomal recessive inheritance; Death in infancy; Developmental regression; Encephalopathy; Hepatomegaly; Hyperammonemia; Increased serum lactate; Infantile onset; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Opisthotonus; Polymicrogyria; Respiratory failure
UQCRC216p12.2100%gene with protein product191329Autosomal recessive inheritance; Hyperammonemia; Hypoglycemia; Increased serum lactate; Increased serum pyruvate; Metabolic acidosis


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome