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

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Phenotypes
Malnutrition

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALDOB9q31.1100%gene with protein product612724Abdominal pain; Autosomal recessive inheritance; Bicarbonaturia; Cirrhosis; Coma; Elevated hepatic transaminases; Failure to thrive; Fructose intolerance; Gastrointestinal hemorrhage; Glycosuria; Hepatic steatosis; Hepatomegaly; Hyperbilirubinemia; Hyperphosphaturia; Hyperuricemia; Hyperuricosuria; Hypoglycemia; Hypophosphatemia; Intellectual disability; Jaundice; Lactic acidosis; Lethargy; Malnutrition; Metabolic acidosis; Nausea; Proximal renal tubular acidosis; Proximal tubulopathy; Seizures; Transient aminoaciduria; Vomiting
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COX4I220q11.21100%gene with protein product607976COX4L2Allergic rhinitis; Anemia of inadequate production; Asthma; Autosomal recessive inheritance; Calvarial hyperostosis; Carious teeth; Delayed skeletal maturation; Exocrine pancreatic insufficiency; Failure to thrive; Global developmental delay; Hepatomegaly; Infantile onset; Jaundice; Malnutrition; Osteopenia; Skin rash; Splenomegaly; Steatorrhea
LIPA10q23.3199.99%gene with protein product613497Abdominal distention; Adrenal calcification; Anemia; Arteriosclerosis; Ascites; Autosomal recessive inheritance; Bone-marrow foam cells; Cachexia; Cirrhosis; Death in infancy; Diarrhea; Esophageal varix; Failure to thrive; Global developmental delay; Growth delay; Hepatic failure; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hypercholesterolemia; Hypertriglyceridemia; Malnutrition; Nausea and vomiting; Protuberant abdomen; Pulmonary arterial hypertension; Splenomegaly; Steatorrhea; Vacuolated lymphocytes; Vomiting
MYO5B18q99.98%gene with protein product606540Abdominal distention; Abnormal renal physiology; Autosomal recessive inheritance; Death in infancy; Dehydration; Diarrhea; Global developmental delay; Growth delay; Hypovolemia; Malnutrition; Metabolic acidosis; Nephrocalcinosis; Protracted diarrhea; Pruritus; Villous atrophyInflammatory Bowel Disease
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
SAA111p15.1100%gene with protein product104750SAAAbdominal pain; Abnormality of oral mucosa; Cholestasis; Chronic diarrhea; Chronic kidney disease; Enlarged kidney; Hepatomegaly; Hypotension; Malabsorption; Malnutrition; Nausea; Nephropathy; Nephrotic syndrome; Proteinuria; Renal amyloidosis; Venous thrombosis; Vomiting
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
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
TYMP22q13.33100%gene with protein product131222MNGIE, ECGF1Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Areflexia; Atrophic muscularis propria; Autosomal recessive inheritance; Cachexia; Constipation; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Diarrhea; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Easy fatigability; Elevated hepatic transaminases; External ophthalmoplegia; Foot dorsiflexor weakness; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Hyperalaninemia; Hypointensity of cerebral white matter on MRI; Increased CSF protein; Intermittent diarrhea; Lactic acidosis; Leukoencephalopathy; Malabsorption; Malnutrition; Mitochondrial myopathy; Multiple mitochondrial DNA deletions; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Sensorimotor neuropathy; Sensorineural hearing impairment; Small intestinal dysmotility; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vomiting


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