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
Falls

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CHD215q26.1100%gene with protein product602119Abnormal brain FDG positron emission tomography; Abnormality of brainstem morphology; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Dysarthria; EEG abnormality; EEG with abnormally slow frequencies; EEG with focal sharp slow waves; EEG with spike-wave complexes (>3.5 Hz); Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonic atonic seizures; Myoclonus; Personality disorder; Status epilepticus
DAB11p32.2100%gene with protein product603448Abnormal conjugate eye movement; Ataxia; Autosomal dominant inheritance; Cerebellar vermis atrophy; Cogwheel rigidity; Diffuse cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Falls; Frequent falls; Horizontal nystagmus; Limb dysmetria; Myoclonus; Scanning speech; Sensorineural hearing impairment; Sensory impairment; Slow progression; Tremor; Truncal ataxia; Unsteady gait
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
DNM19q34.11100%gene with protein product602377DNMAbnormality of brainstem morphology; Absent speech; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Difficulty walking; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Inability to walk; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
GABRB315q12100%gene with protein product137192Abnormality of brainstem morphology; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Dyskinesia; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
LRAT4q32.1100%gene with protein product604863Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital blindness; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Falls; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pallor; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Wide nasal bridge
MAPK104q21.3100%gene with protein product602897PRKM10Abnormality of brainstem morphology; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; EEG with focal sharp slow waves; Encephalopathy; Falls; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
NOL316q22.1100%gene with protein product605235Adult onset; Ataxia; Autosomal dominant inheritance; Falls; Myoclonus; Slow progression
PRKAR1B7p22.3100%gene with protein product176911Abnormal neuron morphology; Anxiety; Apathy; Bradykinesia; Diffuse cerebral atrophy; Falls; Frontotemporal dementia; Impaired visuospatial constructive cognition; Inappropriate behavior; Inertia; Language impairment; Memory impairment; Motor deterioration; Muscle stiffness; Parkinsonism; Postural instability; Short attention span; Short stepped shuffling gait
SACS13q12.1299.99%gene with protein product604490Absent Achilles reflex; Autosomal recessive inheritance; Babinski sign; Cerebellar vermis atrophy; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysmetria; Falls; Hammertoe; Hypermyelinated retinal nerve fibers; Hyperreflexia; Impaired smooth pursuit; Impaired vibration sensation in the lower limbs; Infantile onset; Intellectual disability; Loss of Purkinje cells in the cerebellar vermis; Nystagmus; Pes cavus; Progressive gait ataxia; Progressive truncal ataxia; Scanning speech; Spastic ataxia; Spasticity; Swan neck-like deformities of the fingers; Urinary urgency
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity


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