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"

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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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Phenotypes
Chronic obstructive pulmonary disease

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
CYBA16q24.299.98%gene with protein product608508Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Deficiency or absence of cytochrome b(-245); Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CYBBXp21.1-p11.499.99%gene with protein product300481CGDAbnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Deficiency or absence of cytochrome b(-245); Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent mycobacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Severe recurrent varicella; Sinusitis; Splenomegaly; Tracheoesophageal fistula; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
DNAAF415q21.3100%gene with protein product608706DYX1C1Autosomal recessive inheritance; Bronchiectasis; Chronic obstructive pulmonary disease; Ciliary dyskinesia; Immotile cilia; Infantile onset; Infertility; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Situs inversus totalisHeterotaxy
HLA-DPB16p21.3299.92%gene with protein productXomeDxSlice is not appropriate.142858HLA-DP1BAbdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
MMP111q22.2100%gene with protein product120353CLGAbnormal blistering of the skin; Abnormality of the anus; Absent fingernail; Absent toenail; Ankyloglossia; Blepharitis; Carious teeth; Chronic obstructive pulmonary disease; Constipation; Corneal erosion; Delayed puberty; Dermal atrophy; Dysphagia; Ectropion; Esophageal stricture; Flexion contracture; Loss of eyelashes; Milia; Mitten deformity; Narrow mouth; Osteopenia; Osteoporosis; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Squamous cell carcinoma of the skinHeterotaxy
NCF17q11.2359.72%gene with protein productPlease note that the common pathogenic variant c.75_76delGT is not detectable by XomeDxSlice. NCF1 analysis is available through the Chronic Granulomatous Disease Panel on the Rare Disorders menu: https://www.genedx.com/test-catalog/available-tests/chronic-granulomatous-disease-panel/608512Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaInflammatory Bowel Disease ; Primary Immunodeficiency
NCF21q25.399.98%gene with protein product608515Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
NCF422q12.399.91%gene with protein product601488Abnormality of neutrophils; Autosomal recessive inheritance; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Diarrhea; Fever; Hepatomegaly; Hypermelanotic macule; Malabsorption; Mediastinal lymphadenopathy; Otitis media; Perioral eczema; Pyloric stenosis; Recurrent aphthous stomatitis; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease
NFKB14q24100%gene with protein product164011Anal atresia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bronchitis; Recurrent sinopulmonary infections; Recurrent skin infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency ; Ectodermal Dysplasia ; Hemolytic Anemia
PRTN319p13.3100%gene with protein product177020Abdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
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
SERPINA114q32.13100%gene with protein productSusceptibility alleles or functional polymorphisms will not be reported.107400PIAutosomal recessive inheritance; Chronic obstructive pulmonary disease; Dyspnea; Elevated hepatic transaminases; Emphysema; Hepatic failure; Hepatitis; Hepatocellular carcinoma; Hepatomegaly; Jaundice
WASXp11.2399.19%gene with protein product300392IMD2, THC, WASPAbnormal platelet morphology; Abnormality of eosinophils; Abnormality of the musculature; Abnormality of the skin; Autoimmunity; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Congenital neutropenia; Congenital thrombocytopenia; Decreased mean platelet volume; Dyspnea; Eczema; Epistaxis; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Increased IgA level; Increased IgE level; Inflammation of the large intestine; Intermittent thrombocytopenia; Joint hemorrhage; Lymphopenia; Microcytic anemia; Monocytopenia; Neutropenia; Petechiae; Prolonged bleeding time; Recurrent bacterial infections; Recurrent respiratory infections; Sinusitis; Specific learning disability; Spontaneous hematomas; Thrombocytopenia; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
WIPF12q31.1100%gene with protein product602357WASPIPAbnormal platelet morphology; Abnormality of eosinophils; Autoimmunity; Autosomal recessive inheritance; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased proportion of CD8-positive T cells; Dyspnea; Eczema; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Inflammation of the large intestine; Lymphopenia; Microcytic anemia; Petechiae; Prolonged bleeding time; Recurrent infections; Recurrent respiratory infections; Reduced natural killer cell activity; Sinusitis; Specific learning disability; Spontaneous hematomas; ThrombocytopeniaBone 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