XomeDxSlice Tool

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Phenotypes
Recurrent urinary tract infections

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
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
CFI4q2599.38%gene with protein product217030IFArthritis; Autosomal recessive inheritance; Decreased serum complement C3; Decreased serum complement factor B; Decreased serum complement factor H; Decreased serum complement factor I; Glomerulonephritis; Juvenile onset; Pyelonephritis; Recurrent Haemophilus influenzae infections; Recurrent meningitis; Recurrent meningococcal disease; Recurrent otitis media; Recurrent sinusitis; Recurrent skin infections; Recurrent streptococcus pneumoniae infections; Recurrent urinary tract infections; Renal insufficiency; Vasculitis
CHRM31q43100%gene with protein product118494Abnormal heart morphology; Abnormality of the ribs; Abnormality of the skin; Anal atresia; Aplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the lungs; Autosomal recessive inheritance; Congenital hip dislocation; Congenital posterior urethral valve; Constipation; Cryptorchidism; Decreased fertility; Decreased testicular size; Hydronephrosis; Hydroureter; Multicystic kidney dysplasia; Oligohydramnios; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Prune belly; Recurrent respiratory infections; Recurrent urinary tract infections; Renal insufficiency; Talipes equinovarus; Vesicoureteral reflux; XerostomiaCongenital Kidney and Urinary Tract (CKUT) Anomalies
CIITA16p13.13100%gene with protein product600005MHC2TAAgammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitis
CISD24q2499.87%gene with protein product611507ZCD2, WFS2Abnormal bleeding; Abnormality of mesentery morphology; Ataxia; Autosomal recessive inheritance; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysuria; Feeding difficulties in infancy; Impaired collagen-induced platelet aggregation; Nephropathy; Nystagmus; Optic atrophy; Optic neuropathy; Polydipsia; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment
CLDN163q28100%gene with protein product603959Abdominal pain; Astigmatism; Autosomal recessive inheritance; Chronic kidney disease; Failure to thrive; Feeding difficulties in infancy; Hematuria; Hypercalciuria; Hypermagnesiuria; Hypermetropia; Hyperuricemia; Hypocitraturia; Hypomagnesemia; Juvenile onset; Myopia; Nephrocalcinosis; Nephrolithiasis; Nystagmus; Polydipsia; Polyuria; Recurrent urinary tract infections; Renal calcium wasting; Renal magnesium wasting; Renal tubular acidosis; Seizures; Strabismus; Tetany
CLDN191p34.2100%gene with protein product610036Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Autosomal recessive inheritance; Chorioretinal coloboma; Chronic kidney disease; Hematuria; Hypercalciuria; Hypermagnesiuria; Hypomagnesemia; Inguinal hernia; Macular coloboma; Myopia; Nephrocalcinosis; Nephrolithiasis; Nephropathy; Nystagmus; Recurrent urinary tract infections; Renal calcium wasting; Renal magnesium wasting; Tapetoretinal degeneration
EFEMP211q13.1100%gene with protein product604633Abnormality of the pinna; Aortic aneurysm; Arachnodactyly; Arterial fibromuscular dysplasia; Arterial stenosis; Arterial tortuosity; Atelectasis; Autosomal recessive inheritance; Bladder diverticulum; Bulbous nose; Congenital diaphragmatic hernia; Cutis laxa; Delayed cranial suture closure; Downslanted palpebral fissures; Emphysema; Full cheeks; Generalized arterial tortuosity; Generalized hypotonia; High palate; Hypertelorism; Ileus; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Low-set ears; Microcephaly; Micrognathia; Narrow palpebral fissure; Pectus excavatum; Premature skin wrinkling; Prominence of the premaxilla; Prominent forehead; Proptosis; Ptosis; Pulmonary artery aneurysm; Pulmonary artery dilatation; Pulmonary insufficiency; Recurrent urinary tract infections; Redundant skin; Renal diverticulum; Soft skin
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
FBLN514q32.1299.96%gene with protein product604580Abnormality of the face; Aortic aneurysm; Aortic root aneurysm; Arachnodactyly; Arterial fibromuscular dysplasia; Arterial stenosis; Atelectasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bladder diverticulum; Bowel diverticulosis; Choroidal neovascularization; Congenital diaphragmatic hernia; Cutis laxa; Delayed cranial suture closure; Distal sensory impairment; Drusen; Emphysema; Full cheeks; Heterogeneous; Hypertelorism; Ileus; Inguinal hernia; Joint hyperflexibility; Joint laxity; Microcephaly; Mitral regurgitation; Oligohydramnios; Overgrowth; Pectus excavatum; Pes cavus; Premature skin wrinkling; Ptosis; Recurrent respiratory infections; Recurrent urinary tract infections; Redundant skin; Renal diverticulum; Scoliosis; Supravalvular aortic stenosis; Umbilical hernia; Vascular tortuosity
FLVCR11q32.399.99%gene with protein product609144AXPC1Achalasia; Areflexia; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Broad-based gait; Camptodactyly; Childhood onset; Decreased sensory nerve conduction velocity; Distal muscle weakness; Impaired vibration sensation in the lower limbs; Joint contracture of the hand; Nyctalopia; Optic atrophy; Positive Romberg sign; Recurrent urinary tract infections; Ring scotoma; Rod-cone dystrophy; Scoliosis; Scotoma; Sensory ataxia; Skeletal muscle atrophy; Slow progression; Undetectable electroretinogram; Urinary incontinence
GRHPR9p13.2100%gene with protein product604296GLXRAminoaciduria; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Hematuria; Hyperoxaluria; Nephrocalcinosis; Nephrolithiasis; Recurrent urinary tract infections; Ureteral obstruction; Variable expressivity
HOXA137p15.299.57%gene with protein product142959HOX1J, HOX1Abnormal dermatoglyphics; Autosomal dominant inheritance; Bicornuate uterus; Bifid scrotum; Brachydactyly; Chordee; Clinodactyly of the 5th finger; Delayed ossification of carpal bones; Delayed tarsal ossification; Glandular hypospadias; Hallux varus; Hypoplastic fifth toenail; Hypospadias; Longitudinal vaginal septum; Micropenis; Postaxial hand polydactyly; Proximal placement of thumb; Pseudoepiphyses; Recurrent urinary tract infections; Renal insufficiency; Short 1st metacarpal; Short 2nd toe; Short 5th finger; Short distal phalanx of finger; Short first metatarsal; Short hallux; Shortening of all middle phalanges of the fingers; Small thenar eminence; Synostosis of carpal bones; Ulnar deviation of the 2nd finger; Ureteropelvic junction obstruction; Uterus didelphys; Vesicoureteral refluxDisorders of Sex Development
HPSE210q24.2100%gene with protein product613469UFSAbnormal facial expression; Abnormal facial shape; Autosomal recessive inheritance; Constipation; Cryptorchidism; Enuresis; Hydronephrosis; Hydroureter; Recurrent urinary tract infections; Urethral obstruction; Urethral valve; Urinary incontinence; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
HPSE210q24.2100%gene with protein product613469UFSAbnormal facial expression; Abnormal facial shape; Autosomal recessive inheritance; Constipation; Cryptorchidism; Enuresis; Hydronephrosis; Hydroureter; Recurrent urinary tract infections; Urethral obstruction; Urethral valve; Urinary incontinence; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
HSPA95q31.299.99%gene with protein product600548HSPA9BAgenesis of corpus callosum; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Coronal cleft vertebrae; Dysplasia of the femoral head; Epiphyseal dysplasia; High palate; Highly arched eyebrow; Hypodontia; Midface retrusion; Oligohydramnios; Patent foramen ovale; Recurrent urinary tract infections; Renal hypoplasia; Severe short stature; Short neck; Short nose; Sideroblastic anemia; Sparse hair
ISL15q11.1100%gene with protein product600366Abnormality of the anus; Abnormality of the clitoris; Bladder exstrophy; Epispadias; Hypoplasia of penis; Inguinal hernia; Recurrent urinary tract infections; Umbilical hernia; Vesicoureteral reflux
KCTD118q11.2100%gene with protein product613420C18orf52-3 toe syndactyly; 3-4 finger cutaneous syndactyly; Abnormality of the antihelix; Abnormality of the endocrine system; Abnormality of the fingernails; Abnormality of the scalp; Abnormality of the skin; Abnormality of the thorax; Agenesis of permanent teeth; Aplasia/Hypoplasia of the nipples; Autosomal dominant inheritance; Breast aplasia; Cataract; Cupped ear; Delayed eruption of teeth; Depressed nasal bridge; Hypertension; Low-set ears; Microtia; Nail dysplasia; Palpebral edema; Protruding ear; Recurrent urinary tract infections; Small earlobe; Sparse hair; Telecanthus; Type I diabetes mellitus; Underdeveloped antitragus; Underdeveloped tragusHeterotaxy
LRIG21p13.299.55%gene with protein product608869Autosomal recessive inheritance; Constipation; Cryptorchidism; Enuresis; Hydronephrosis; Recurrent urinary tract infections; Renal insufficiency; Urethral obstruction; Urinary incontinence; Urinary urgency; Vesicoureteral reflux
LRIG21p13.299.55%gene with protein product608869Autosomal recessive inheritance; Constipation; Cryptorchidism; Enuresis; Hydronephrosis; Recurrent urinary tract infections; Renal insufficiency; Urethral obstruction; Urinary incontinence; Urinary urgency; Vesicoureteral reflux
MLXIPL7q11.2399.84%gene with protein product605678WBSCR14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Broad nasal tip; Chronic constipation; Constipation; Coronary artery stenosis; Cutis laxa; Dental malocclusion; Depressed nasal bridge; Down-sloping shoulders; Enuresis; Epicanthus; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Glucose intolerance; Hallux valgus; Hoarse voice; Hyperacusis; Hyperreflexia; Hypodontia; Impaired visuospatial constructive cognition; Incoordination; Intellectual disability; Intrauterine growth retardation; Joint laxity; Kyphoscoliosis; Large earlobe; Long philtrum; Medial flaring of the eyebrow; Microdontia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow forehead; Obesity; Obsessive-compulsive trait; Open mouth; Osteopenia; Osteoporosis; Pelvic kidney; Periorbital fullness; Peripheral pulmonary artery stenosis; Phonophobia; Poor coordination; Premature graying of hair; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Renal hypoplasia; Renal insufficiency; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Strabismus; Thick lower lip vermilion; Urethral stenosis; Vesicoureteral reflux
MNX17q36.395.91%gene with protein product142994HLXB9Abdominal distention; Anal atresia; Anal fistula; Anal stenosis; Anterior sacral meningocele; Aplasia/Hypoplasia of the sacrum; Autosomal dominant inheritance; Bicornuate uterus; Chronic constipation; Gastrointestinal obstruction; Global developmental delay; Horseshoe kidney; Incomplete penetrance; Neurogenic bladder; Perianal abscess; Presacral teratoma; Rectovaginal fistula; Recurrent urinary tract infections; Sacrococcygeal teratoma; Septate vagina; Tethered cord; Urinary incontinence; Vesicoureteral refluxDisorders of Sex Development; VACTERL Association
MSNXq12100%gene with protein product309845Decreased antibody level in blood; Eczema; Lymphopenia; Recurrent respiratory infections; Recurrent urinary tract infections; X-linked recessive inheritance
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
PKD24q22.199.86%gene with protein product173910Autosomal dominant inheritance; Elevated serum creatinine; Incomplete penetrance; Polycystic kidney dysplasia; Progressive; Recurrent urinary tract infections; Renal insufficiency; Stage 5 chronic kidney diseaseHeterotaxy
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
RFX51q21.3100%gene with protein product601863Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
RFXANK19p13.11100%gene with protein product603200Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
RFXAP13q13.3100%gene with protein product601861Agammaglobulinemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Biliary tract abnormality; Chronic lymphocytic meningitis; Chronic mucocutaneous candidiasis; Colitis; Cutaneous anergy; Encephalitis; Failure to thrive; Malabsorption; Neutropenia; Panhypogammaglobulinemia; Protracted diarrhea; Recurrent bacterial infections; Recurrent fungal infections; Recurrent lower respiratory tract infections; Recurrent protozoan infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Villous atrophy; Viral hepatitisAutoimmune Disorders
SAMD97q21.2100%gene with protein product610456C7orf5Abnormality of the skin; Adrenal insufficiency; Aspiration pneumonia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcinosis; Chronic diarrhea; Conjunctivitis; Cryptorchidism; Decreased body weight; Decreased testicular size; Gastroesophageal reflux; Gingivitis; Global developmental delay; Hypergonadotropic hypogonadism; Hyperkalemia; Hypoglycemia; Hyponatremia; Hypospadias; Intrauterine growth retardation; Microphallus; Motor delay; Overlapping fingers; Patent ductus arteriosus; Petechiae; Radial club hand; Recurrent bacterial infections; Recurrent urinary tract infections; Rocker bottom foot; Scoliosis; Sepsis; Short stature; Talipes equinovarusAplastic Anemia ; Bone Marrow Failure Syndromes
SLC3A12p21100%gene with protein product104614Abnormality of the nervous system; Argininuria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cystinuria; Decreased fetal movement; Depressed nasal bridge; Dolichocephaly; Epicanthus; Failure to thrive; Fatigue; Frontal bossing; Global developmental delay; Growth delay; Hyperlysinuria; Hypocalcemia; Hypogonadism; Intellectual disability, moderate; Lactic acidosis; Long eyelashes; Low-set, posteriorly rotated ears; Mitochondrial respiratory chain defects; Muscular hypotonia; Nasal speech; Nephrolithiasis; Ornithinuria; Polyphagia; Ptosis; Recurrent urinary tract infections; Renal insufficiency; Retrognathia; Seizures; Variable expressivity
SLC7A919q13.11100%gene with protein product604144CSNU3Abnormality of the nervous system; Argininuria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cystinuria; Hyperlysinuria; Nephrolithiasis; Ornithinuria; Recurrent urinary tract infections; Renal insufficiency; Variable expressivity
THOC616p13.3100%gene with protein product615403WDR58Abnormal facial shape; Autosomal recessive inheritance; Blepharophimosis; Carious teeth; Deeply set eye; Dental malocclusion; Endometriosis; Global developmental delay; High anterior hairline; High forehead; Horseshoe kidney; Intellectual disability; Long nose; Low hanging columella; Microcephaly; Myopia; Patent ductus arteriosus; Recurrent urinary tract infections; Short palpebral fissure; Upslanted palpebral fissure
TNXB6p21.33-p21.92.07%gene with protein productLocated in the Chr 6 MHC Region600985TNXB1, TNXB2Acrocyanosis; Ambiguous genitalia, female; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Bruising susceptibility; Constipation; Decreased nerve conduction velocity; Depressivity; Duplicated collecting system; Elbow dislocation; Fatigue; Hiatus hernia; Hip dislocation; Hyperextensible skin; Joint hyperflexibility; Joint hypermobility; Malabsorption; Migraine; Mitral valve prolapse; Muscular hypotonia; Myalgia; Nausea and vomiting; Osteoarthritis; Pes planus; Proximal muscle weakness; Recurrent urinary tract infections; Sensory neuropathy; Skeletal muscle atrophy; Sleep disturbance; Soft skin; Thin skin; Vertigo; Vesicoureteral reflux; Wormian bones
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
TRAIP3p21.31100%gene with protein product605958Abnormality of dental enamel; Absent earlobe; Ambiguous genitalia; Atrial septal defect; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphysis; Congenital diaphragmatic hernia; Convex nasal ridge; Craniosynostosis; Decreased fetal movement; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Hypertrichosis; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Polyhydramnios; Prematurely aged appearance; Recurrent urinary tract infections; Reduced number of teeth; Sandal gap; Short stature; Small for gestational age; Sparse scalp hair; Talipes equinovarus; Ventricular septal defect
WFS14p16.1100%gene with protein product606201DFNA6, DFNA14, DFNA38Abnormality of mesentery morphology; Abnormality of the pinna; Abnormality of the upper urinary tract; Anxiety; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Central diabetes insipidus; Cerebral atrophy; Congenital cataract; Congenital sensorineural hearing impairment; Delayed puberty; Dementia; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysphagia; Dysuria; Feeding difficulties in infancy; Gastrointestinal dysmotility; Glaucoma; Glucose intolerance; Growth delay; Hearing impairment; Hydronephrosis; Hydroureter; Hypothyroidism; Intellectual disability; Limited mobility of proximal interphalangeal joint; Low-frequency sensorineural hearing impairment; Male hypogonadism; Megaloblastic anemia; Nephropathy; Neurogenic bladder; Nuclear cataract; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Pigmentary retinopathy; Polydipsia; Primary gonadal insufficiency; Progressive cerebellar ataxia; Progressive sensorineural hearing impairment; Psychosis; Ptosis; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment; Sideroblastic anemia; Stroke-like episode; Testicular atrophy; Thrombocytopenia; TremorDisorders of Sex Development


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