XomeDxSlice Tool

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



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Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALMS12p13.199.77%gene with protein product606844Abnormal chorioretinal morphology; Abnormality of the dentition; Abnormality of the hand; Acanthosis nigricans; Accelerated skeletal maturation; Alopecia; Asthma; Atherosclerosis; Autosomal recessive inheritance; Blindness; Cataract; Chronic active hepatitis; Chronic otitis media; Cone/cone-rod dystrophy; Congestive heart failure; Constriction of peripheral visual field; Death in early adulthood; Decreased circulating high-density lipoprotein levels; Diabetes insipidus; Dilated cardiomyopathy; Elevated hepatic transaminases; Gingivitis; Global developmental delay; Growth hormone deficiency; Gynecomastia; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperostosis frontalis interna; Hypertension; Hypertriglyceridemia; Hyperuricemia; Hypothyroidism; Insulin resistance; Insulin-resistant diabetes mellitus; Kyphosis; Menstrual irregularities; Multinodular goiter; Nephritis; Nystagmus; Otitis media; Pes planus; Photophobia; Pigmentary retinopathy; Progressive sensorineural hearing impairment; Progressive visual loss; Pulmonary arterial hypertension; Recurrent pneumonia; Recurrent respiratory infections; Renal insufficiency; Respiratory insufficiency; Scoliosis; Short stature; Subcapsular cataract; Truncal obesity; Tubulointerstitial nephritis; Type II diabetes mellitusBardet-Biedl Syndrome ; Obesity
BANF111q13.1100%gene with protein product603811Abnormality of the forearm; Abnormality of the ribs; Atherosclerosis; Autosomal recessive inheritance; Convex nasal ridge; Delayed closure of the anterior fontanelle; Dental crowding; Failure to thrive; Flexion contracture; Joint stiffness; Lipoatrophy; Malar flattening; Micrognathia; Midface retrusion; Osteolytic defects of the distal phalanges of the hand; Osteoporosis; Progressive clavicular acroosteolysis; Proptosis; Pulmonary arterial hypertension; Right bundle branch block; Scoliosis; Short stature; Sinus tachycardia; Sparse and thin eyebrow; Sparse eyelashes; Spotty hyperpigmentation; Wide cranial sutures
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
CYP27A12q35100%gene with protein product606530CYP27Abnormal pyramidal signs; Abnormality of central somatosensory evoked potentials; Abnormality of cholesterol metabolism; Abnormality of extrapyramidal motor function; Abnormality of the dentate nucleus; Abnormality of the periventricular white matter; Abnormality of vision; Angina pectoris; Ataxia; Atherosclerosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholelithiasis; Delusions; Dementia; Depressivity; Developmental regression; Diarrhea; Dystonia; EEG with generalized slow activity; EMG: axonal abnormality; Hallucinations; Hypercholesterolemia; Hyperreflexia; Intellectual disability; Muscle weakness; Myocardial infarction; Myoclonus; Neurological speech impairment; Optic disc pallor; Osteoporosis; Peripheral neuropathy; Pseudobulbar paralysis; Respiratory insufficiency; Seizures; Spasticity; Tendon xanthomatosis; Tremor; Xanthelasma
ENG9q34.11100%gene with protein product131195ORW1, ORWAbnormal circle of Willis morphology; Abnormality of brainstem morphology; Anemia; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Brain abscess; Cavernous hemangioma; Cerebral arteriovenous malformation; Cerebral berry aneurysm; Cerebral hemorrhage; Cholecystitis; Cirrhosis; Clubbing; Conjunctival telangiectasia; Cyanosis; Dilatation of celiac artery; Dilatation of mesenteric artery; Dyspnea; Epistaxis; Fingerpad telangiectases; Gastrointestinal angiodysplasia; Gastrointestinal arteriovenous malformation; Gastrointestinal telangiectasia; Hematemesis; Hematochezia; Hemiparesis; Hepatic arteriovenous malformation; Heterogeneous; High-output congestive heart failure; Hypertension; Ischemic stroke; Lip telangiectasia; Melena; Microcytic anemia; Migraine; Nail bed telangiectasia; Nasal mucosa telangiectasia; Palate telangiectasia; Polycythemia; Portal hypertension; Pulmonary arteriovenous malformation; Right-to-left shunt; Seizures; Spinal arteriovenous malformation; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Subarachnoid hemorrhage; Telangiectasia of the skin; Tongue telangiectasia; Transient ischemic attack; Venous varicosities of celiac and mesenteric vessels; Visceral angiomatosis; Visual field defect
GGCX2p11.299.99%gene with protein product137167Abnormal bleeding; Abnormality of coagulation; Abnormality of the optic nerve; Absent retinal pigment epithelium; Angioid streaks of the fundus; Atherosclerosis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Bruising susceptibility; Cutis laxa; Epiphyseal stippling; Epistaxis; Increased number of skin folds; Joint hemorrhage; Nyctalopia; Papule; Prolonged partial thromboplastin time; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity; Redundant skin; Rod-cone dystrophy; Short distal phalanx of finger; Short nose; Strabismus
GGCX2p11.299.99%gene with protein product137167Abnormal bleeding; Abnormality of coagulation; Abnormality of the optic nerve; Absent retinal pigment epithelium; Angioid streaks of the fundus; Atherosclerosis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Bruising susceptibility; Cutis laxa; Epiphyseal stippling; Epistaxis; Increased number of skin folds; Joint hemorrhage; Nyctalopia; Papule; Prolonged partial thromboplastin time; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity; Redundant skin; Rod-cone dystrophy; Short distal phalanx of finger; Short nose; Strabismus
LDLRAP11p36.11100%gene with protein product605747Abnormal internal carotid artery morphology; Angina pectoris; Aortic atherosclerosis; Atherosclerosis; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Dyspnea; Heart murmur; Hepatic steatosis; Hypercholesterolemia; Hyperlipidemia; Hypertension; Increased circulating low-density lipoprotein levels; Increased circulating very-low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Sudden cardiac death; Tendon xanthomatosis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
TGFBR31p22.1100%gene with protein product600742Abnormal circle of Willis morphology; Abnormality of brainstem morphology; Atherosclerosis; Cerebral berry aneurysm; Hemiparesis; Hypertension; Seizures; Transient ischemic attack; Visual field defect
WRN8p1299.96%gene with protein product604611RECQL2, RECQ3Abnormal hair whorl; Abnormality of retinal pigmentation; Abnormality of the hair; Abnormality of the thorax; Abnormality of the voice; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the testes; Atherosclerosis; Autosomal recessive inheritance; Cataract; Chondrocalcinosis; Congestive heart failure; Convex nasal ridge; Decreased fertility; Diabetes mellitus; Hyperkeratosis; Hypogonadism; Increased bone mineral density; Insulin resistance; Lack of skin elasticity; Lipoatrophy; Meningioma; Myocardial infarction; Narrow face; Osteoporosis; Osteosarcoma; Pili torti; Premature arteriosclerosis; Premature graying of hair; Progeroid facial appearance; Pulmonary artery stenosis; Retinal degeneration; Rocker bottom foot; Short stature; Skeletal muscle atrophy; Skin ulcer; Slender build; Small hand; Sparse scalp hair; Subcutaneous calcification; Telangiectasia of the skin; Type II diabetes mellitus; White forelock

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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome