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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Place an e-order of this Slice on a specific patient through the GeneDx Portal  
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Phenotypes
Oral ulcer

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
C4A6p21.330 %gene with protein productLocated in the Chr 6 MHC Region120810Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal recessive inheritance; Complement deficiency; Confusion; Cutaneous photosensitivity; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Glomerulonephritis; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Purpura; Recurrent aphthous stomatitis; Subcutaneous nodule; Systemic lupus erythematosus; Vasculitis; Venous thrombosisHemolytic Anemia
CAT11p13100%gene with protein product115500Autosomal recessive inheritance; Oral ulcer; Reduced catalase activityMale Infertility
CCR13p21.31100%gene with protein product601159SCYAR1, CMKBR1Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
DCLRE1C10p13100%gene with protein product605988SCIDAAbnormal lymphocyte morphology; Absent tonsils; Alopecia; Anemia; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Genital ulcers; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; Lymph node hypoplasia; Lymphadenopathy; Oral ulcer; Otitis media; Panhypogammaglobulinemia; Phenotypic variability; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent upper respiratory tract infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaInflammatory Bowel Disease ; Primary Immunodeficiency
ELANE19p13.3100%gene with protein product130130ELA2Abnormality of the mouth; Acute monocytic leukemia; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital agranulocytosis; Cyclic neutropenia; Eosinophilia; Fatigue; Fever; Growth abnormality; Increased antibody level in blood; Infantile onset; Monocytosis; Neutropenia; Oral ulcer; Overlapping toe; Periodontitis; Recurrent bacterial infections; Recurrent skin infections; Sepsis; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
ERAP15q1598.95%gene with protein product606832Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
FAS10q23.31100%gene with protein product134637FAS1, APT1, TNFRSF6Abdominal pain; Abnormal blistering of the skin; Abnormal eyebrow morphology; Abnormality of the eyelashes; Acne; Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Arthralgia; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Cataract; Chronic noninfectious lymphadenopathy; Cognitive impairment; Confusion; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Fatigue; Fever; Follicular hyperplasia; Gait disturbance; Gastrointestinal hemorrhage; Glaucoma; Hemiparesis; Hepatomegaly; Hypopigmented skin patches; Immunologic hypersensitivity; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Platelet antibody positive; Poliosis; Premature graying of hair; Recurrent aphthous stomatitis; Reduced delayed hypersensitivity; Retinal detachment; Rheumatoid factor positive; Sensorineural hearing impairment; Short stature; Smooth muscle antibody positivity; Sparse scalp hair; Splenomegaly; Subcutaneous nodule; Urticaria; Vasculitis; Venous thrombosis; Visual impairment; VitiligoAutoimmune Disorders ; Bone Marrow Failure Syndromes
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
IL101q32.1100%gene with protein product124092Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosisAutoimmune Disorders ; Inflammatory Bowel Disease
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12A-AS13q25.33RNA, long non-codingXomeDxSlice is not appropriate.Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL23R1p31.399.96%gene with protein product607562Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL7R5p13.2100%gene with protein product146661Abnormal lymphocyte morphology; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Eczema; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Pneumonia; Pruritus; Recurrent opportunistic infections; Severe combined immunodeficiency; Splenomegaly; Thickened skinPrimary Immunodeficiency
KLRC412p13.299.87%gene with protein product602893Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
PTPRC1q31.3-q32.198.8%gene with protein product151460CD45Autosomal recessive inheritance; Decrease in T cell count; Diarrhea; Eczema; Failure to thrive secondary to recurrent infections; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Recurrent opportunistic infections; Severe combined immunodeficiency; SplenomegalyAutoimmune Disorders ; Primary Immunodeficiency
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SLC46A117q11.2100%gene with protein product611672Abnormality of movement; Anorexia; Ataxia; Athetosis; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Cheilitis; Decreased antibody level in blood; Diarrhea; Dyskinesia; Failure to thrive; Feeding difficulties in infancy; Folate-responsive megaloblastic anemia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glossitis; Infantile onset; Intellectual disability; Irritability; Leukopenia; Malabsorption; Megaloblastic anemia; Nausea and vomiting; Neutropenia; Oral ulcer; Pallor; Peripheral neuropathy; Recurrent infections; Seizures; Thrombocytopenia
STAT42q32.2-q32.399.99%gene with protein product600558Abdominal pain; Abnormal blistering of the skin; Acne; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Confusion; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Polyarticular arthritis; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
TLR49q33.1100%gene with protein product603030Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
UBAC213q32.3100%gene with protein productPHGDHL1Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis


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