XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Myoglobinuria

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
HADH4q25100%gene with protein product601609HADHSCAbnormality of acetylcarnitine metabolism; Autosomal recessive inheritance; Confusion; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Diarrhea; Dicarboxylic aciduria; Dilated cardiomyopathy; Elevated hepatic transaminases; Fasting hyperinsulinemia; Feeding difficulties in infancy; Fulminant hepatic failure; Generalized hypotonia; Growth delay; Hepatic necrosis; Hepatic steatosis; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypertrophic cardiomyopathy; Hypoglycemic coma; Hypoglycemic encephalopathy; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased C-peptide level; Increased circulating free fatty acid level; Intellectual disability; Intrauterine growth retardation; Lethargy; Muscular hypotonia; Myoglobinuria; Neonatal hypoglycemia; Neonatal hypotonia; Phenotypic variability; Proportionate short stature; VomitingRhabdomyolysis
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
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
LDHA11p15.1100%gene with protein product150000Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased serum lactate; Increased serum pyruvate; Juvenile onset; Muscle cramps; Muscle stiffness; Myalgia; Myoglobinuria; Renal insufficiency; Rhabdomyolysis; RigidityRhabdomyolysis
LPIN12p25.1100%gene with protein product605518Acute kidney injury; Acute rhabdomyolysis; Areflexia; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Fever; Hyperkalemia; Hyporeflexia; Muscle weakness; Myalgia; MyoglobinuriaRhabdomyolysis
PGAM27p13100%gene with protein product612931Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myalgia; Myoglobinuria; Myopathy; Renal insufficiency; RhabdomyolysisRhabdomyolysis
PYGM11q13.199.97%gene with protein product608455Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise-induced muscle cramps; Exercise-induced myalgia; Muscle weakness; Myoglobinuria; Myopathy; RhabdomyolysisRhabdomyolysis
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
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


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