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
Cellulitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AGGF15q13.399.95%gene with protein product608464Cellulitis; Gastrointestinal hemorrhage; Hemangioma; Lower limb asymmetry; Pulmonary embolism; Tall stature; Upper limb asymmetry; Venous insufficiency; Venous thrombosis
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
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
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
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
PIK3CD1p36.22100%gene with protein product602839Autosomal dominant inheritance; Bronchiectasis; Cellulitis; Decreased antibody level in blood; Immunodeficiency; Lymphadenopathy; Recurrent ear infections; Recurrent sinopulmonary infections; SplenomegalyAutoimmune Disorders ; Inflammatory Bowel Disease
PLCG216q24.199.99%gene with protein product600220Allergic rhinitis; Arthralgia; Autosomal dominant inheritance; Bronchiolitis; Cellulitis; Erythema; Hashimoto thyroiditis; IgA deficiency; IgM deficiency; Immune dysregulation; Infantile onset; Interstitial pneumonitis; Recurrent infections; Urticaria; VitiligoAutoimmune Disorders ; Inflammatory Bowel Disease
SLC35A16q1599.56%gene with protein product605634Abnormal megakaryocyte morphology; Abnormal platelet granules; Autosomal recessive inheritance; Cellulitis; Giant platelets; Hypoxemia; Infantile onset; Neutropenia; Pneumonia; Prolonged bleeding time; Pulmonary hemorrhage; Recurrent bacterial infections; Respiratory distress; Subcutaneous hemorrhage; Thrombocytopenia


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