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
Sudden death

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CACNA1C12p13.3399.98%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 114205CCHL1A1, CACNL1A1Atrial fibrillation; Autosomal dominant inheritance; Cutaneous syndactyly; Depressed nasal bridge; Global developmental delay; J wave; Microdontia; Prolonged QT interval; Recurrent infections; Round face; Shortened QT interval; Sudden cardiac death; Sudden death; Syncope; Thin upper lip vermilion; Ventricular arrhythmiaAutoimmune Disorders
CALM114q32.11100%gene with protein product114180CALML2Autosomal dominant inheritance; Cardiac arrest; Prolonged QT interval; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CALM114q32.11100%gene with protein product114180CALML2Autosomal dominant inheritance; Cardiac arrest; Prolonged QT interval; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CASQ21p13.199.91%gene with protein product114251Autosomal dominant inheritance; Autosomal recessive inheritance; Seizures; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CASQ21p13.199.91%gene with protein product114251Autosomal dominant inheritance; Autosomal recessive inheritance; Seizures; Sudden death; Syncope; Ventricular tachycardia; Vertigo
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
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
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
JUP17q21.2100%gene with protein product173325CTNNGAcantholysis; Alopecia; Anonychia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cleft upper lip; Congestive heart failure; Curly hair; Dilated cardiomyopathy; Epidermal acanthosis; Fragile skin; Heterogeneous; Hyperhidrosis; Nail dystrophy; Onycholysis; Oral mucosal blisters; Palmoplantar keratoderma; Paroxysmal ventricular tachycardia; Right bundle branch block; Right ventricular cardiomyopathy; Skin erosion; Sparse and thin eyebrow; Sparse scalp hair; Sudden cardiac death; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
MYH614q11.299.97%gene with protein product160710Abnormality of metabolism/homeostasis; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Congestive heart failure; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Secundum atrial septal defect; Subvalvular aortic stenosis; Sudden death
MYH714q11.2100%gene with protein product160760CMH1, MPD1Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Amyotrophy of ankle musculature; Arrhythmia; Asymmetric septal hypertrophy; Atrial fibrillation; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Chest pain; Childhood onset; Congenital onset; Congestive heart failure; Decreased fetal movement; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Fatigue; Feeding difficulties; Gait disturbance; Generalized limb muscle atrophy; Generalized muscle weakness; Heterogeneous; High palate; Hypertrophic cardiomyopathy; Imperforate tricuspid valve; Infantile onset; Long face; Lumbar hyperlordosis; Mildly elevated creatine phosphokinase; Myalgia; Narrow face; Neck muscle weakness; Neonatal hypotonia; Onset; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Premature birth; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Right bundle branch block; Scapular winging; Scapuloperoneal amyotrophy; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Slow progression; Subvalvular aortic stenosis; Sudden death; Toe extensor amyotrophy; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Weakness of facial musculature; Weakness of long finger extensor muscles
MYLK220q11.21100%gene with protein product606566Abnormality of metabolism/homeostasis; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Congestive heart failure; Subvalvular aortic stenosis; Sudden death
RYR21q4399.89%gene with protein product180902ARVD2Autosomal dominant inheritance; Dilatation of the ventricular cavity; Effort-induced polymorphic ventricular tachycardias; Right ventricular cardiomyopathy; Seizures; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo
RYR21q4399.89%gene with protein product180902ARVD2Autosomal dominant inheritance; Dilatation of the ventricular cavity; Effort-induced polymorphic ventricular tachycardias; Right ventricular cardiomyopathy; Seizures; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo
SCN5A3p22.2100%gene with protein product600163CMD1EArrhythmia; Atrial fibrillation; Atrial flutter; Atrial standstill; Atrioventricular block; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiac arrest; Complete heart block with broad QRS complexes; Congenital onset; Dilated cardiomyopathy; Dyspnea; Heterogeneous; Left anterior fascicular block; Left bundle branch block; Left posterior fascicular block; Palpitations; Paroxysmal atrial fibrillation; Premature atrial contractions; Prolonged QT interval; Reduced systolic function; Right bundle branch block; Sick sinus syndrome; Sinus bradycardia; Stroke; Sudden cardiac death; Sudden death; Supraventricular tachycardia; Syncope; Torsade de pointes; Ventricular escape rhythm; Ventricular extrasystoles; Ventricular fibrillationHeterotaxy
SCN5A3p22.2100%gene with protein product600163CMD1EArrhythmia; Atrial fibrillation; Atrial flutter; Atrial standstill; Atrioventricular block; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiac arrest; Complete heart block with broad QRS complexes; Congenital onset; Dilated cardiomyopathy; Dyspnea; Heterogeneous; Left anterior fascicular block; Left bundle branch block; Left posterior fascicular block; Palpitations; Paroxysmal atrial fibrillation; Premature atrial contractions; Prolonged QT interval; Reduced systolic function; Right bundle branch block; Sick sinus syndrome; Sinus bradycardia; Stroke; Sudden cardiac death; Sudden death; Supraventricular tachycardia; Syncope; Torsade de pointes; Ventricular escape rhythm; Ventricular extrasystoles; Ventricular fibrillationHeterotaxy
SOST17q21.31100%gene with protein product6057402-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the nose; Abnormality of the ribs; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad clavicles; Broad ribs; Choanal stenosis; Coarse facial features; Cognitive impairment; Concave nasal ridge; Conductive hearing impairment; Constriction of peripheral visual field; Cortically dense long tubular bones; Cranial hyperostosis; Cranial nerve paralysis; Craniofacial hyperostosis; Craniofacial osteosclerosis; Curved distal phalanges of the hand; Dental malocclusion; Depressed nasal bridge; Deviation of finger; Diaphyseal sclerosis; Diaphyseal thickening; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Esotropia; Facial diplegia; Facial palsy; Facial palsy secondary to cranial hyperostosis; Fingernail dysplasia; Frontal bossing; Generalized osteosclerosis; Headache; Hearing impairment; Hypertelorism; Increased bone mineral density; Increased intracranial pressure; Infantile onset; Intellectual disability; Macrocephaly; Malar flattening; Mandibular prognathia; Midface retrusion; Nail dysplasia; Nystagmus; Optic atrophy; Optic atrophy from cranial nerve compression; Overgrowth; Papilledema; Progressive; Progressive visual loss; Proptosis; Ptosis; Sclerotic scapulae; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Sudden death; Tall stature; Thickened cortex of long bones; Thickened ribs; Visual loss; Wide nasal bridge
TECRL4q13.197.88%gene with protein product617242Autosomal recessive inheritance; Sudden death; Syncope; Ventricular tachycardia; Vertigo
TNNT21q32.199.88%gene with protein product191045CMH2, CMD1DAutosomal dominant inheritance; Cardiomyopathy; Congestive heart failure; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sudden death
TRDN6q22.3193.18%gene with protein product603283Autosomal dominant inheritance; Autosomal recessive inheritance; Proximal muscle weakness; Seizures; Sudden death; Syncope; Ventricular tachycardia; Vertigo
TTN2q31.299.92%gene with protein product188840CMD1GAdult onset; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Diaphragmatic weakness; Dilated cardiomyopathy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Hypertrophic cardiomyopathy; Incomplete penetrance; Infantile onset; Motor delay; Muscular dystrophy; Myopathy; Neck flexor weakness; Proximal muscle weakness; Ptosis; Rimmed vacuoles; Scoliosis; Slow progression; Steppage gait; Sudden death


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