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  
Obtain a Slice ID to order testing with a printed requisition form  
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Phenotypes
Polyarticular arthritis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANKRD555q11.2100%gene with protein product615189Antinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
DMP14q22.199.83%gene with protein product600980Abnormal trabecular bone morphology; Abnormality of renal excretion; Abnormality of the sacroiliac joint; Autosomal recessive inheritance; Bone pain; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Distal femoral bowing; Elevated alkaline phosphatase of bone origin; Enlargement of the wrists; Enthesitis; Genu varum; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased bone mineral density; Low serum calcitriol; Lower limb asymmetry; Malabsorption; Osteomalacia; Polyarticular arthritis; Pseudo-fractures; Renal hypophosphatemia; Renal phosphate wasting; Rickets; Rickets of the lower limbs; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Spinal canal stenosis; Tibial bowing; Tooth abscess
ENPP16q23.299.79%gene with protein product173335NPPS, M6S1, PDNP1Abnormal trabecular bone morphology; Abnormality of renal excretion; Abnormality of the cerebral vasculature; Abnormality of the sacroiliac joint; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Congestive heart failure; Coronary artery calcification; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Distal femoral bowing; Elevated alkaline phosphatase of bone origin; Enlargement of the wrists; Enthesitis; Epidermal acanthosis; Excessive wrinkled skin; Generalized arterial calcification; Genu varum; Hypergranulosis; Hyperkeratosis; Hyperphosphaturia; Hypertension; Hypophosphatemic rickets; Increased bone mineral density; Low serum calcitriol; Lower limb asymmetry; Malabsorption; Myocardial infarction; Myopia; Osteomalacia; Polyarticular arthritis; Pseudo-fractures; Renal hypophosphatemia; Renal phosphate wasting; Retinal hemorrhage; Retinopathy; Rickets of the lower limbs; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Spinal canal stenosis; Striae distensae; Thickened nuchal skin fold; Tibial bowing; Tooth abscessPalmoplantar keratoderma plus congenital ichthyosis
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL2RB22q12.3100%gene with protein product146710IL15RBAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
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
NLRP117p1399.96%gene with protein product606636NALP1, SLEV1Antinuclear antibody positivity; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal neovascularization; Dry skin; Ectodermal dysplasia; Epidermal acanthosis; Failure to thrive; Follicular hyperkeratosis; Growth delay; Hyperkeratosis; Increased IgA level; Keratoconjunctivitis sicca; Palmoplantar keratoderma; Parakeratosis; Photophobia; Polyarticular arthritis; Punctate keratitis; Splenomegaly; Squamous cell carcinoma; Thyroiditis; UveitisAutoimmune Disorders ; Palmoplantar keratoderma plus congenital ichthyosis
NOD216q12.1100%gene with protein product605956IBD1, CARD15Abnormality of the cranial nerves; Abnormality of the ear; Arthralgia; Arthritis; Autosomal dominant inheritance; Band keratopathy; Camptodactyly of finger; Cataract; Cystoid macular edema; Dry skin; Eczema; Erythema; Erythema nodosum; Fever; Flexion contracture of toe; Glaucoma; Hyperpigmentation of the skin; Intermittent generalized erythematous papular rash; Iridocyclitis; Iritis; Joint swelling; Keratitis; Limitation of joint mobility; Nongranulomatous uveitis; Papule; Photophobia; Polyarticular arthritis; Posterior uveitis; Skin rash; Skin ulcer; Synovitis; Tendonitis; UveitisInflammatory Bowel Disease ; Primary Immunodeficiency
PTPN218p11.2199.84%gene with protein product176887PTPTAntinuclear antibody positivity; Apraxia; Arthralgia; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
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
TYK219p13.299.99%gene with protein product176941Antinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Immunodeficiency; Increased IgE level; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Recurrent fungal infections; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent viral infectionsAutoimmune Disorders


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