XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Ketonuria

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
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
GCDH19p13.13100%gene with protein product608801Abnormal facial shape; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Choreoathetosis; Delayed myelination; Dilation of lateral ventricles; Dyskinesia; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Glutaric acidemia; Glutaric aciduria; Hepatomegaly; Hypoglycemia; Infantile encephalopathy; Irritability; Joint dislocation; Ketonuria; Ketosis; Large fontanelles; Macrocephaly; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Prominent forehead; Rigidity; Spastic diplegia; Spasticity; Symmetrical progressive peripheral demyelination; Vomiting
GCK7p13100%gene with protein product138079MODY2Abnormal C-peptide level; Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Fasting hyperinsulinemia; Fatigue; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hand tremor; Heterogeneous; Hyperglycemia; Hyperinsulinemic hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Late onset; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Recurrent hypoglycemia; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight loss
GYS212p12.199.96%gene with protein product138571Autosomal recessive inheritance; Fasting hypoglycemia; Glycosuria; Increased serum lactate; Irritability; Ketonuria; Ketosis; Ketotic hypoglycemia; Neonatal hypoglycemia; Postprandial hyperglycemia; Seizures
HYMAI6q24.2RNA, long non-codingXomeDxSlice is not appropriate.606546Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Severe failure to thrive; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
INS11p15.5100%gene with protein product176730IDDM2, IDDM1Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Hypsarrhythmia; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type I diabetes mellitus; Weight lossDisorders of Sex Development; Obesity
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
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
MCEE2p13.3100%gene with protein product608419Autosomal recessive inheritance; Dehydration; Failure to thrive; Gastroesophageal reflux; Ketonuria; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria
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
OXCT15p13.197.27%gene with protein product601424OXCTAutosomal recessive inheritance; Episodic ketoacidosis; Ketonuria; Tachypnea; Vomiting
PDX113q12.2100%gene with protein product600733IPF1Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Exocrine pancreatic insufficiency; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Hypsarrhythmia; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Pancreatic hypoplasia; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight lossObesity
PLAGL16q24.2100%gene with protein product603044Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis
ZFP576p22.1100%gene with protein product612192C6orf40Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Contractures of the joints of the lower limbs; Dehydration; Downturned corners of mouth; Failure to thrive; Global developmental delay; Glycosuria; Hyperglycemia; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Motor delay; Prominent metopic ridge; Severe failure to thrive; Transient neonatal diabetes mellitus; Weight loss


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