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
Esophageal varix

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
F51q24.299.91%gene with protein product612309Abdominal pain; Adult onset; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cirrhosis; Deep venous thrombosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Fever; Hepatomegaly; Hypercoagulability; Menorrhagia; Portal hypertension; Preeclampsia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prolonged whole-blood clotting time; Reduced factor V activity; Resistance to activated protein C; SplenomegalyHeterotaxy
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
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
PKHD16p12.3-p12.299.97%gene with protein product606702TIGM1Absence of renal corticomedullary differentiation; Autosomal recessive inheritance; Biliary tract abnormality; Congenital hepatic fibrosis; Dehydration; Depressed nasal ridge; Enlarged kidney; Esophageal varix; Hepatic cysts; Hepatomegaly; Hypoplasia of the ear cartilage; Low-set, posteriorly rotated ears; Macrotia; Micrognathia; Multiple renal cysts; Oligohydramnios; Pancreatic cysts; Periportal fibrosis; Polycystic kidney dysplasia; Portal hypertension; Potter facies; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia/aplasia; Renal insufficiency; Respiratory insufficiency; Splenomegaly; Tubulointerstitial fibrosis
STN110q24.33100%gene with protein productFormer name = OBFC1613128OBFC1Ataxia; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Cough; Dystonia; Esophageal varix; Exertional dyspnea; Gastroesophageal reflux; Gastrointestinal hemorrhage; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Intrauterine growth retardation; Osteopenia; Pancytopenia; Portal hypertension; Premature graying of hair; Pulmonary fibrosis; Rales; Reticular pattern on pulmonary HRCT; Retinal telangiectasia; SpasticityBone Marrow Failure Syndromes


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