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
Lymphoma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BCL218q21.3381.16%gene with protein product151430Fatigue; Fever; Lymphoma; Mediastinal lymphadenopathy; Night sweats; Splenomegaly; Weight loss
BCL63q27.3100%gene with protein product109565ZNF51Fatigue; Fever; Lymphoma; Mediastinal lymphadenopathy; Night sweats; Splenomegaly; Weight loss
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
CASP102q33.1100%gene with protein product601762Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Chronic noninfectious lymphadenopathy; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Follicular hyperplasia; Hepatomegaly; Increase in B cell count; Increased IgA level; Increased IgG level; Increased IgM level; Increased level of L-fucose in urine; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Juvenile onset; Lymphoma; Malar rash; Nephritis; Nephrotic syndrome; Platelet antibody positive; Reduced delayed hypersensitivity; Rheumatoid factor positive; Smooth muscle antibody positivity; Somatic mutation; Splenomegaly; Stomach cancer; Urticaria; VasculitisAutoimmune Disorders
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
CHEK222q12.199.84%gene with protein product604373RAD53Abnormal lactate dehydrogenase activity; Abnormality of metabolism/homeostasis; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Breast carcinoma; Elevated alkaline phosphatase; Glioma; Joint swelling; Lymphoma; Meningioma; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Primary peritoneal carcinoma; Progressive encephalopathy; Retinoblastoma; Sarcoma; Stomach cancerAplastic Anemia
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
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
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
IGH14q32.33gene with protein productXomeDxSlice is not appropriate146910, 147010,IGHDY1, IGH@Abnormality of bone marrow cell morphology; Anemia; Anorexia; B-cell lymphoma; Constipation; Fatigue; Fever; Hyperhidrosis; Lymphadenopathy; Lymphoma; Mediastinal lymphadenopathy; Nausea and vomiting; Night sweats; Pulmonary infiltrates; Splenomegaly; Weight loss
ITK5q33.3100%gene with protein product186973Anemia; Autoimmunity; Autosomal recessive inheritance; Elevated erythrocyte sedimentation rate; Hepatomegaly; IgG deficiency; Juvenile onset; Lymphadenopathy; Lymphoma; Pancytopenia; Recurrent aphthous stomatitis; Recurrent infections; Splenomegaly; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
MAGT1Xq21.199.98%gene with protein product300715Decreased proportion of CD4-positive T cells; Decreased T cell activation; Immunodeficiency; Lymphoma; Recurrent viral infections; X-linked inheritanceAutoimmune Disorders
MDM212q15100%gene with protein product164785Breast carcinoma; Lymphoma; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Osteosarcoma; Progressive encephalopathy; Subcutaneous nodule
MLH13p22.299.99%gene with protein product120436COCA2Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH22p21-p16.399.98%gene with protein productThe published inversion of exons 1-7 is not evaluated by XomeDxSlice but can be ordered separately: https://www.genedx.com/test-catalog/available-tests/msh2-exons-1-7-inversion-analysis/609309COCA1Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH62p16.3100%gene with protein product600678GTBPAbdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Incomplete penetrance; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Seizures; Weight loss
MYD883p22.2100%gene with protein product602170Abnormality of neutrophils; Autosomal dominant inheritance; Gingival bleeding; Hypercoagulability; Immunodeficiency; Impaired lymphocyte transformation with phytohemagglutinin; Leukemia; Lymphoma; Monoclonal immunoglobulin M proteinemia; Normocytic anemia; Pallor; Polyclonal elevation of IgM; Polyneuropathy; Recurrent bacterial skin infections; Respiratory insufficiency; Vertigo
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
PMS27p22.196.7%gene with protein product600259PMSL2Abdominal pain; Abnormality of abdomen morphology; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neuroblastoma; Ovarian neoplasm; Rhabdomyosarcoma; Seizures; Weight loss
PNP14q11.2100%gene with protein product164050NPAbnormality of B cell physiology; Ataxia; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral vasculitis; Failure to thrive; Generalized hypotonia; Hypouricemia; Impaired T cell function; Intellectual disability; Lymph node hypoplasia; Lymphoma; Lymphopenia; Motor delay; Otitis media; Pneumonia; Recurrent bacterial infections; Recurrent lower respiratory tract infections; Recurrent opportunistic infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Sinusitis; Spastic diplegia; Splenomegaly; Tetraparesis; TremorAutoimmune Disorders ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis
PRF110q22.1100%gene with protein product170280Anemia; Aplastic anemia; Ataxia; Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; CSF pleocytosis; Encephalitis; Failure to thrive; Generalized edema; Generalized hypotonia; Global developmental delay; Hemiplegia; Hemophagocytosis; Hepatomegaly; Hypertonia; Hypertriglyceridemia; Hypoalbuminemia; Hypofibrinogenemia; Hyponatremia; Hypoproteinemia; Increased CSF protein; Increased intracranial pressure; Increased serum ferritin; Increased total bilirubin; Irritability; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Meningitis; Prolonged prothrombin time; Seizures; Splenomegaly; Tetraplegia; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
RAD54B8q22.1100%gene with protein product604289Lymphoma
RAD54L1p34.199.94%gene with protein product603615Lymphoma
RB113q14.296.48%gene with protein product614041OSRCAbnormal dermatoglyphics; Abnormal lactate dehydrogenase activity; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Brachydactyly; Cataract; Cleft palate; Clinodactyly of the 5th finger; Elevated alkaline phosphatase; Epicanthus; Finger syndactyly; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint swelling; Leukemia; Leukocoria; Low-set ears; Lymphoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Neoplasm of the lung; Osteolysis; Osteosarcoma; Pain; Pinealoma; Prominent nasal bridge; Protruding ear; Ptosis; Retinal calcification; Retinoblastoma; Short neck; Short stature; Somatic mutation; Sporadic; Thickened helices; Transitional cell carcinoma of the bladder; Trigonocephaly; Vitreous hemorrhage; Wide nasal bridge
RUNX121q22.12100%gene with protein product151385AML1, CBFA2Abnormality of basophils; Acute monocytic leukemia; Acute myeloid leukemia; Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Fatigue; Fever; Impaired platelet aggregation; Leukocytosis; Lymphoma; Myelodysplasia; Myeloproliferative disorder; Neuroblastoma; Poor appetite; Prolonged bleeding time; Splenomegaly; Thrombocytopenia; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes
SH2D1AXq2599.56%gene with protein product300490IMD5, LYPAnemia; Cellular immunodeficiency; Decreased antibody level in blood; Encephalitis; Fulminant hepatitis; Hepatic encephalopathy; Hepatomegaly; IgG deficiency; Immunodeficiency; Increased IgM level; Lymphadenopathy; Lymphoma; Meningitis; Pancytopenia; Recurrent pharyngitis; Reduced natural killer cell activity; Splenomegaly; Thrombocytopenia; X-linked recessive inheritanceAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
SH2D1AXq2599.56%gene with protein product300490IMD5, LYPAnemia; Cellular immunodeficiency; Decreased antibody level in blood; Encephalitis; Fulminant hepatitis; Hepatic encephalopathy; Hepatomegaly; IgG deficiency; Immunodeficiency; Increased IgM level; Lymphadenopathy; Lymphoma; Meningitis; Pancytopenia; Recurrent pharyngitis; Reduced natural killer cell activity; Splenomegaly; Thrombocytopenia; X-linked recessive inheritanceAutoimmune Disorders ; Bone Marrow Failure Syndromes ; 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
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
XIAPXq2599.1%gene with protein product300079API3, BIRC4Anemia; Cellular immunodeficiency; Decreased antibody level in blood; Encephalitis; Fulminant hepatitis; Hepatic encephalopathy; Hepatomegaly; IgG deficiency; Immunodeficiency; Increased IgM level; Lymphadenopathy; Lymphoma; Meningitis; Pancytopenia; Recurrent pharyngitis; Reduced natural killer cell activity; Splenomegaly; Thrombocytopenia; X-linked inheritance; X-linked recessive inheritanceAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
XIAPXq2599.1%gene with protein product300079API3, BIRC4Anemia; Cellular immunodeficiency; Decreased antibody level in blood; Encephalitis; Fulminant hepatitis; Hepatic encephalopathy; Hepatomegaly; IgG deficiency; Immunodeficiency; Increased IgM level; Lymphadenopathy; Lymphoma; Meningitis; Pancytopenia; Recurrent pharyngitis; Reduced natural killer cell activity; Splenomegaly; Thrombocytopenia; X-linked inheritance; X-linked recessive inheritanceAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity


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