XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Hepatocellular carcinoma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB112q31.1100%gene with protein product603201BSEP, PFIC2Autosomal recessive inheritance; Cholelithiasis; Cirrhosis; Conjugated hyperbilirubinemia; Death in childhood; Diarrhea; Elevated alkaline phosphatase; Failure to thrive; Fat malabsorption; Hepatocellular carcinoma; Hepatomegaly; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Jaundice; Pruritus; Short stature; Splenomegaly
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
AXIN116p13.3100%gene with protein product603816Autosomal dominant inheritance; Hepatocellular carcinoma; Heterogeneous; Micronodular cirrhosis; Somatic mutation; Subacute progressive viral hepatitis; Ureteral duplication; Uterus didelphys
CASP82q33.1100%gene with protein product601763Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic diarrhea; Decreased T cell activation; Defective B cell activation; Eczema; Failure to thrive; Hepatocellular carcinoma; Heterogeneous; Lymphadenopathy; Micronodular cirrhosis; Pneumonia; Recurrent sinopulmonary infections; Short stature; Somatic mutation; Splenomegaly; Subacute progressive viral hepatitisAutoimmune Disorders
CTNNB13p22.1100%gene with protein product116806CTNNBAbdominal pain; Abnormal hypothalamus morphology; Abnormal visual field test; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the musculature; Autosomal dominant inheritance; Autosomal recessive inheritance; Bitemporal hemianopia; Breast carcinoma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Desmoid tumors; Dysgerminoma; Elevated alpha-fetoprotein; Enlarged pituitary gland; Epigastric pain; Excessive daytime somnolence; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Incomplete penetrance; Infantile onset; Intellectual disability; Intestinal polyposis; Intracranial cystic lesion; Long philtrum; Malabsorption; Medulloblastoma; Microcephaly; Micronodular cirrhosis; Myalgia; Nausea and vomiting; Neoplasm of the anterior pituitary; Neoplasm of the stomach; Neurological speech impairment; Obesity; Ovarian papillary adenocarcinoma; Papilledema; Pilomatrixoma; Pituitary hypothyroidism; Portal vein thrombosis; Progressive visual field defects; Prolactin excess; Renal cell carcinoma; Slow decrease in visual acuity; Somatic mutation; Spastic diplegia; Strabismus; Subacute progressive viral hepatitis; Subcutaneous nodule; Thin upper lip vermilion; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Vomiting
FAH15q25.1100%gene with protein product613871Abnormal bleeding; Abnormality of coagulation; Abnormality of the abdominal wall; Acute hepatic failure; Ascites; Autosomal recessive inheritance; Cirrhosis; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Elevated urinary delta-aminolevulinic acid; Enlarged kidney; Episodic peripheral neuropathy; Failure to thrive; Gastrointestinal hemorrhage; Generalized aminoaciduria; Glomerulosclerosis; Hepatocellular carcinoma; Hepatomegaly; Hypermethioninemia; Hypertrophic cardiomyopathy; Hypertyrosinemia; Hypoglycemia; Hypophosphatemic rickets; Nephrocalcinosis; Pancreatic islet-cell hyperplasia; Paralytic ileus; Periodic paralysis; Renal Fanconi syndrome; Renal insufficiency; Splenomegaly
G6PC17q21.31100%gene with protein product613742G6PTAbnormal bleeding; Autosomal recessive inheritance; Decreased glomerular filtration rate; Decreased muscle mass; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Intermittent diarrhea; Lactic acidosis; Lipemia retinalis; Nephrolithiasis; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Short stature; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
H1911p15.5RNA, long non-codingXomeDxSlice is not appropriate.103280Abdominal pain; Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Frontal bossing; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Macroglossia; Micrognathia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HMBS11q23.3100%gene with protein product609806PBGD, UPS, PORCAbdominal pain; Abnormal urinary color; Acute episodes of neuropathic symptoms; Anorexia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Constipation; Depressivity; Diarrhea; Dysuria; Elevated urinary delta-aminolevulinic acid; Hepatocellular carcinoma; Hyperhidrosis; Hypertension; Hypertensive crisis; Insomnia; Muscle weakness; Myalgia; Nausea; Nausea and vomiting; Paralytic ileus; Paresthesia; Psychotic episodes; Respiratory paralysis; Seizures; Tachycardia; Urinary incontinence; Urinary retention; VomitingRhabdomyolysis
IGF211p15.5100%gene with protein product147470C11orf43Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Decreased body weight; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Melanocytic nevus; Micrognathia; Midface retrusion; Motor delay; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Relative macrocephaly; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Short stature; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux; X-linked recessive inheritance
IGF2R6q25.3100%gene with protein product147280Autosomal dominant inheritance; Hepatocellular carcinoma; Heterogeneous; Micronodular cirrhosis; Somatic mutation; Subacute progressive viral hepatitis
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12RB119p13.1199.59%gene with protein product601604IL12RBAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Autosomal recessive inheritance; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunodeficiency; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus; Recurrent mycobacterial infections
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
MET7q31100%gene with protein product164860Abdominal pain; Autosomal dominant inheritance; Autosomal recessive inheritance; Elevated alpha-fetoprotein; Epigastric pain; Fatigue; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Incomplete penetrance; Micronodular cirrhosis; Papillary renal cell carcinoma; Portal vein thrombosis; Somatic mutation; Subacute progressive viral hepatitis; Vomiting
MMEL11p36.32100%gene with protein productMMEL2Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
PDGFRL8p2299.99%gene with protein product604584Autosomal dominant inheritance; Hepatocellular carcinoma; Heterogeneous; Micronodular cirrhosis; Somatic mutation; Subacute progressive viral hepatitis
PIK3CA3q26.3299.76%gene with protein product171834Abdominal pain; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the cerebral vasculature; Abnormality of the penis; Adenoma sebaceum; Adult onset; Alveolar cell carcinoma; Angioid streaks of the fundus; Anxiety; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Asymmetric growth; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Broad forehead; Capillary malformation; Cataract; Cavernous hemangioma; Cavum septum pellucidum; Cognitive impairment; Colon cancer; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial hyperostosis; Cutis marmorata; Death in early adulthood; Death in infancy; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dysgerminoma; Epicanthus; Facial asymmetry; Failure to thrive; Fatigue; Fibroadenoma of the breast; Finger syndactyly; Foot polydactyly; Frontal bossing; Full cheeks; Furrowed tongue; Gastrointestinal hemorrhage; Generalized hyperkeratosis; Generalized hypotonia; Glioblastoma multiforme; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hearing impairment; Hemihypertrophy; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Hernia; Heterogeneous; High forehead; High palate; Hydrocele testis; Hydrocephalus; Hypermelanotic macule; Hypertelorism; Hyperthyroidism; Hypertonia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intention tremor; Irritability; Joint hyperflexibility; Joint laxity; Kyphosis; Large earlobe; Leukemia; Lipoma; Macrocephaly; Macrodactyly; Macroglossia; Macule; Malabsorption; Megalencephaly; Melanocytic nevus; Meningioma; Micrognathia; Micronodular cirrhosis; Microphthalmia; Migraine; Mucosal telangiectasiae; Muscular hypotonia; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Nephroblastoma; Nevus flammeus; Numerous nevi; Ovarian cyst; Ovarian papillary adenocarcinoma; Overgrowth; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polydactyly; Polymicrogyria; Progressive macrocephaly; Renal cell carcinoma; Sandal gap; Scoliosis; Seizures; Skin tags; Smooth philtrum; Somatic mutation; Splenomegaly; Sporadic; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous lipoma; Subcutaneous nodule; Syndactyly; Telangiectasia of the skin; Thyroid adenoma; Thyroiditis; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Varicocele; Venous malformation; Ventricular septal defect; Ventriculomegaly; Verrucae; Visceral angiomatosis; Weight loss; Wide mouth
POU2AF111q23.1100%gene with protein product601206Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
SERPINA114q32.13100%gene with protein productSusceptibility alleles or functional polymorphisms will not be reported.107400PIAutosomal recessive inheritance; Chronic obstructive pulmonary disease; Dyspnea; Elevated hepatic transaminases; Emphysema; Hepatic failure; Hepatitis; Hepatocellular carcinoma; Hepatomegaly; Jaundice
SLC25A137q21.3100%gene with protein product603859CTLN2Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Confusion; Decreased circulating high-density lipoprotein levels; Elevated hepatic transaminases; Elevated plasma citrulline; Failure to thrive; Growth delay; Hepatic steatosis; Hepatocellular carcinoma; Hyperammonemia; Hyperbilirubinemia; Hypercholesterolemia; Hypermethioninemia; Hypertriglyceridemia; Intrahepatic cholestasis; Pancreatitis
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SPIB19q13.33100%gene with protein product606802Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
SPRTN1q42.2100%gene with protein product616086C1orf124Autosomal recessive inheritance; Bulbous nose; Decreased body weight; Delayed skeletal maturation; Down-sloping shoulders; Elbow flexion contracture; Frontal bossing; Hepatocellular carcinoma; Lipodystrophy; Micrognathia; Pectus excavatum; Pes planus; Posterior subcapsular cataract; Prominent nasal bridge; Short stature; Skeletal muscle atrophy; Thoracic kyphoscoliosis; Triangular face
TJP29q21.11100%gene with protein product607709DFNA51Autosomal recessive inheritance; Failure to thrive; Hepatic failure; Hepatocellular carcinoma; Increased serum bile acid concentration; Intrahepatic cholestasis; Portal hypertension; Progressive; Pruritus; Rickets; Steatorrhea; Vitamin K deficiency
TNFSF159q32100%gene with protein product604052Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TNPO37q32.1100%gene with protein product610032LGMD1FAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; PruritusRhabdomyolysis
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
UROD1p34.1100%gene with protein product613521Alopecia; Autosomal dominant inheritance; Cirrhosis; Cutaneous photosensitivity; Facial hypertrichosis; Fragile skin; Hemolytic anemia; Hepatocellular carcinoma; Hyperpigmentation in sun-exposed areas; Onycholysis; Scleroderma; Thin skin


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