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
Increased megakaryocyte count

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CALR19p13.13100%gene with protein product109091Abnormal platelet morphology; Abnormality of the skeletal system; Acrocyanosis; Amaurosis fugax; Arterial thrombosis; Autosomal dominant inheritance; Chest pain; Hypertension; Impaired platelet aggregation; Increased megakaryocyte count; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Prolonged bleeding time; Somatic mutation; Splenomegaly; Thrombocytosis; Transient ischemic attack; Venous thrombosis
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
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
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
SH2B312q24.12100%gene with protein product605093Abnormal platelet morphology; Abnormality of the skeletal system; Acrocyanosis; Amaurosis fugax; Arterial thrombosis; Autosomal dominant inheritance; Cerebral hemorrhage; Chest pain; Exertional dyspnea; Fatigue; Headache; Hypertension; Impaired platelet aggregation; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral thrombosis; Plethora; Prolonged bleeding time; Somatic mutation; Splenomegaly; Thrombocytosis; Transient ischemic attack; Venous thrombosis; VertigoBone Marrow Failure Syndromes
TET24q24100%gene with protein product612839KIAA1546Abdominal pain; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Bruising susceptibility; Chest pain; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Increased megakaryocyte count; Myelodysplasia; Myelofibrosis; Myocardial infarction; Paresthesia; Prolonged bleeding time; Respiratory insufficiency; Somatic mutation; Splenomegaly; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
TP5317p13.1100%gene with protein product191170Abdominal pain; Abnormal lactate dehydrogenase activity; Abnormal platelet morphology; Abnormal serum dehydroepiandrosterone level; Abnormality of metabolism/homeostasis; Abnormality of reproductive system physiology; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Acute leukemia; Adrenocortical carcinoma; Adrenocorticotropic hormone deficiency; Amaurosis fugax; Anorexia; Anxiety; Arterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Breast carcinoma; Chest pain; Choroid plexus papilloma; Chronic fatigue; Colon cancer; Diabetes mellitus; Elevated alkaline phosphatase; Elevated serum 11-deoxycortisol; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Headache; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hydrocephalus; Hyperaldosteronism; Hyperhidrosis; Hypertension; Hypertrichosis; Hypokalemia; Increased body weight; Increased level of L-fucose in urine; Increased megakaryocyte count; Increased serum androstenedione; Increased serum estradiol; Increased urinary cortisol level; Intestinal pseudo-obstruction; Irritability; Jaundice; Joint swelling; Lung adenocarcinoma; Lymphadenopathy; Lymphoma; Micronodular cirrhosis; Muscle weakness; Myocardial infarction; Nausea; Neoplasia of the nasopharynx; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Neoplasm of the stomach; Nephroblastoma; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Palpitations; Pancreatic adenocarcinoma; Panic attack; Papilledema; Paradoxical increased cortisol secretion on dexamethasone suppression test; Paresthesia; Polygenic inheritance; Poor appetite; Primary peritoneal carcinoma; Progressive encephalopathy; Prolonged bleeding time; Prostate cancer; Prostate neoplasm; Renal cell carcinoma; Retinoblastoma; Seizures; Soft tissue sarcoma; Somatic mutation; Splenomegaly; Striae distensae; Subacute progressive viral hepatitis; Transient ischemic attack; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Venous thrombosis; Vomiting; Weight lossAplastic Anemia ; Bone 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