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  



  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-AlportAlport Syndrome
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-PPK/CIPalmoplantar keratoderma / congenital ichthyosis
CS-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome

 
Common Variable Immune Deficiency

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADA20q13.12100%gene with protein product608958Abnormal lymphocyte morphology; Abnormality of pelvic girdle bone morphology; Absence of lymph node germinal center; Absent specific antibody response; Absent tonsils; Allergy; Alopecia; Anterior rib cupping; Anti-thyroid peroxidase antibody positivity; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Asthma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; B lymphocytopenia; B-cell lymphoma; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Diffuse mesangial sclerosis; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; IgA deficiency; IgM deficiency; Immunoglobulin IgG2 deficiency; Increased IgE level; Inflammatory abnormality of the skin; Lack of T cell function; Lymphadenopathy; Platyspondyly; Pneumonia; Pruritus; Pulmonary insufficiency; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent otitis media; Recurrent pneumonia; Recurrent upper respiratory tract infections; Recurrent viral infections; Reduced red cell adenosine deaminase activity; Severe B lymphocytopenia; Severe combined immunodeficiency; Sinusitis; Somatic mosaicism; Splenomegaly; Thickened skinAutoimmune Disorders ; Common Variable Immune Deficiency ; Hemolytic Anemia ; Inflammatory Bowel Disease ; Palmoplantar keratoderma / congenital ichthyosis; Primary Immunodeficiency
CD1916p11.2100%gene with protein product107265Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD40LGXq26.399.75%gene with protein product300386HIGM1, IMD3, TNFSF5Absence of lymph node germinal center; Chronic hepatitis; Decreased T cell activation; Diarrhea; Dysgammaglobulinemia; Enlarged tonsils; Gingivitis; Hemolytic anemia; Hepatitis; Hepatomegaly; IgA deficiency; IgE deficiency; IgG deficiency; Immunodeficiency; Impaired Ig class switch recombination; Impaired memory B cell generation; Increased IgM level; Neutropenia; Recurrent bacterial infections; Splenomegaly; Stomatitis; Thrombocytopenia; X-linked recessive inheritanceAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CD8111p15.599.74%gene with protein product186845TAPA1Anal atresia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CR21q32.2100%gene with protein product120650Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Disorders of Sex Development
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
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
IKZF17p12.210.34%gene with protein productlow coverage on current XomeDx platform 603023ZNFN1A1Abnormal blistering of the skin; Abnormality of neutrophils; Acantholysis; Autosomal dominant inheritance; B lymphocytopenia; Decreased antibody level in blood; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Incomplete penetrance; Macule; Nausea and vomiting; Recurrent bacterial infections; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency
IL214q27100%gene with protein product605384Autosomal recessive inheritance; Chronic diarrhea; Decreased antibody level in blood; Failure to thrive; Growth delay; Immunodeficiency; Infantile onset; Inflammation of the large intestine; Recurrent respiratory infectionsAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
IRF2BP21q42.3100%gene with protein product615332Common Variable Immune Deficiency
LRBA4q31.399.84%gene with protein product606453CDC4LArthritis; Asthma; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Bronchiectasis; Chronic diarrhea; Chronic lung disease; Clubbing of fingers; Colitis; Conjunctivitis; Failure to thrive; Gastritis; Growth delay; Hypothyroidism; IgA deficiency; IgM deficiency; Immunodeficiency; Lymphadenopathy; Pneumonia; Progressive; Recurrent otitis media; Recurrent sinusitis; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
MS4A111q12.2100%gene with protein product112210CD20Anal atresia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
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
NFKB210q24.3299.99%gene with protein product164012Abnormal size of pituitary gland; Abnormality of the periungual region; Adrenocorticotropin deficient adrenal insufficiency; Anal atresia; Asthma; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Central adrenal insufficiency; Chronic otitis media; Decreased antibody level in blood; Decreased circulating ACTH level; Decreased circulating cortisol level; Elevated hepatic transaminases; Fatigue; Hemolytic anemia; Hypoglycemic coma; Hyponatremia; Hypotension; Immunodeficiency; Lymphadenopathy; Lymphopenia; Nail dystrophy; Pneumonia; Purpura; Recurrent bronchitis; Recurrent hypoglycemia; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Severe B lymphocytopenia; Severe viral infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PRKCD3p21.1100%gene with protein product176977Anal atresia; Arthralgia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; Immunodeficiency; Infantile onset; Lymphadenopathy; Lymphopenia; Membranous nephropathy; Nephrotic syndrome; Pneumonia; Purpura; Recurrent bronchitis; Recurrent infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
RAC222q13.199.93%gene with protein product602049Abnormality of neutrophil physiology; Immunodeficiency; Leukocytosis; Poor wound healingAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Primary Immunodeficiency
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
TNFRSF13B17p11.2100%gene with protein product604907Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent otitis media; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Primary Immunodeficiency
TNFRSF13C22q13.2100%gene with protein product606269Adult onset; Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Phenotypic variability; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
TNFSF1217p13.1100%gene with protein product602695Anal atresia; Autoimmune thrombocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bronchitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
UNG12q24.11100%gene with protein product191525DGUAutosomal recessive inheritance; Epididymitis; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired Ig class switch recombination; Increased IgM level; Lymphadenopathy; Recurrent bacterial infections; Recurrent upper and lower respiratory tract infectionsAutoimmune Disorders ; Common Variable Immune Deficiency
VAV119p13.3100%gene with protein product164875VAVAutoimmune Disorders ; Common Variable Immune Deficiency
WASXp11.2399.19%gene with protein product300392IMD2, THCAbnormal 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

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.