XomeDxSlice Tool

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



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You may also use this search to review average exome sequencing coverage by entering the gene symbol below.


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Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADK10q22.2100%gene with protein product102750Autosomal recessive inheritance; Cerebral atrophy; Cholestasis; Decreased liver function; Delayed speech and language development; Elevated hepatic transaminases; Failure to thrive; Frontal bossing; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hyperbilirubinemia; Hypermethioninemia; Hypertelorism; Infantile onset; Macrocephaly; Narrow foot; Poor speech; Portal fibrosis; Progressive; Seizures; Skeletal muscle atrophy
AKR1D17q33100%gene with protein product604741SRD5B1Abnormal bleeding; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Chronic hepatic failure; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
ALDOB9q31.1100%gene with protein product612724Abdominal pain; Autosomal recessive inheritance; Bicarbonaturia; Cirrhosis; Coma; Elevated hepatic transaminases; Failure to thrive; Fructose intolerance; Gastrointestinal hemorrhage; Glycosuria; Hepatic steatosis; Hepatomegaly; Hyperbilirubinemia; Hyperphosphaturia; Hyperuricemia; Hyperuricosuria; Hypoglycemia; Hypophosphatemia; Intellectual disability; Jaundice; Lactic acidosis; Lethargy; Malnutrition; Metabolic acidosis; Nausea; Proximal renal tubular acidosis; Proximal tubulopathy; Seizures; Transient aminoaciduria; Vomiting
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
ANK18p11.21100%gene with protein product612641ANKAbnormality of the hypothalamus-pituitary axis; Autosomal dominant inheritance; Azoospermia; Cholelithiasis; Cryptorchidism; External ear malformation; Global developmental delay; Hemolytic anemia; High palate; Hyperbilirubinemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Intellectual disability; Jaundice; Microcephaly; Micrognathia; Nystagmus; Preauricular pit; Reticulocytosis; Short stature; Spherocytosis; SplenomegalyHemolytic Anemia ; Nephrotic Syndrome
DGUOK2p13.1100%gene with protein product601465Abnormal conjugate eye movement; Adult onset; Ascites; Autosomal recessive inheritance; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Decreased activity of mitochondrial respiratory chain; Depletion of mitochondrial DNA in liver; Distal muscle weakness; Dysphonia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized aminoaciduria; Generalized hypotonia; Growth delay; Hepatic failure; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hyperbilirubinemia; Hyperreflexia; Hypoalbuminemia; Hypoglycemia; Hyporeflexia; Hypothermia; Increased serum lactate; Jaundice; Lactic acidosis; Microcephaly; Micronodular cirrhosis; Mitochondrial myopathy; Nystagmus; Peripheral axonal neuropathy; Periportal fibrosis; Polyneuropathy; Portal hypertension; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Splenomegaly; Thrombocytopenia; VomitingRhabdomyolysis
HK110q22.1100%gene with protein product142600Abnormality of the foot; Abnormality of the hand; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal regeneration; Cholecystitis; Cholelithiasis; Congenital onset; Constriction of peripheral visual field; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty walking; Distal muscle weakness; Hyperbilirubinemia; Hyporeflexia; Jaundice; Macular atrophy; Nonspherocytic hemolytic anemia; Normochromic anemia; Normocytic anemia; Nyctalopia; Optic disc pallor; Peripheral hypomyelination; Peripheral neuropathy; Photophobia; Progressive; Reduced visual acuity; Reticulocytosis; SplenomegalyHemolytic Anemia
HSD3B716p11.2100%gene with protein product607764Abnormality of coagulation; Abnormality of the coagulation cascade; Acholic stools; Autosomal recessive inheritance; Biliary tract abnormality; Cirrhosis; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypocholesterolemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
KCNN419q13.31100%gene with protein product602754Acanthocytosis; Anisopoikilocytosis; Autosomal dominant inheritance; Hemolytic anemia; Hepatomegaly; Hyperbilirubinemia; Increased mean corpuscular volume; Jaundice; Reticulocytosis; Splenomegaly
KIF2315q2399.95%gene with protein product605064KNSL5Abnormal cellular phenotype; Abnormal proerythroblast morphology; Anemia; Anisocytosis; Fatigue; Hyperbilirubinemia; Increased mean corpuscular volume; Increased serum iron; Increased total iron binding capacity; PoikilocytosisBone Marrow Failure Syndromes
KLF119p13.13100%gene with protein product600599Abnormal bone structure; Absence of Lutheran antigen on erythrocytes; Anemia; Anemia of inadequate production; Autosomal dominant inheritance; Congenital onset; Erythroid hyperplasia; Hepatomegaly; Hydrops fetalis; Hyperbilirubinemia; Pallor; Persistence of hemoglobin F; Reticulocytosis; Short stature; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
PAX82q14.1100%gene with protein product167415Abdominal distention; Autosomal dominant inheritance; Bradycardia; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed skeletal maturation; Dry skin; Ectopic thyroid; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Goiter; Growth delay; Hoarse cry; Hyperbilirubinemia; Hypersomnia; Hypothermia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Jaundice; Large fontanelles; Large posterior fontanelle; Lethargy; Macroglossia; Muscle weakness; Muscular hypotonia; Short stature; Stridor; Thyroid agenesis; Thyroid hypoplasia; Umbilical hernia
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
RFX66q22.199.63%gene with protein product612659RFXDC1Absent gallbladder; Acholic stools; Autosomal recessive inheritance; Biliary atresia; Diarrhea; Duodenal atresia; Hyperbilirubinemia; Hyperglycemia; Intestinal malrotation; Intrauterine growth retardation; Jejunal atresia; Malabsorption; Pancreatic hypoplasia
RHAG6p12.3100%gene with protein product180297Autosomal dominant inheritance; Autosomal recessive inheritance; Hemolytic anemia; Hepatomegaly; Hyperbilirubinemia; Increased intracellular sodium; Increased red cell osmotic fragility; Jaundice; Reticulocytosis; Splenomegaly; Stomatocytosis; Unconjugated hyperbilirubinemiaHemolytic Anemia
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
SLC4A117q21.31100%gene with protein product109270EPB3, AE1, DI, WDAbnormality of metabolism/homeostasis; Anorexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal renal tubular acidosis; Elliptocytosis; Failure to thrive; Hemolytic anemia; Hepatosplenomegaly; Hyperbilirubinemia; Hyperchloremic metabolic acidosis; Hypocalcemia; Hypokalemia; Increased red cell osmotic fragility; Isothenuria; Jaundice; Lethargy; Metabolic acidosis; Nephrocalcinosis; Osteomalacia; Pallor; Pathologic fracture; Periodic hypokalemic paresis; Periodic paralysis; Postnatal growth retardation; Renal tubular acidosis; Reticulocytosis; Rickets; Short stature; Spherocytosis; Splenomegaly; StomatocytosisHemolytic Anemia
SPTB14q23.3100%gene with protein product182870Autosomal dominant inheritance; Hemolytic anemia; Hyperbilirubinemia; Jaundice; Reticulocytosis; Spherocytosis; SplenomegalyHemolytic Anemia
STOM9q33.2100%gene with protein product133090EPB7, EPB72Autosomal dominant inheritance; Hemolytic anemia; Hepatomegaly; Hyperbilirubinemia; Increased intracellular sodium; Increased red cell osmotic fragility; Jaundice; Reticulocytosis; Splenomegaly; Stomatocytosis
TRMU22q13.31100%gene with protein product610230TRMTAbdominal distention; Abnormality of the coagulation cascade; Acute hepatic failure; Aminoglycoside-induced hearing loss; Autosomal recessive inheritance; Elevated hepatic transaminases; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hyperbilirubinemia; Increased serum lactate; Jaundice; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Mitochondrial inheritance; Mitochondrial respiratory chain defects; Vomiting

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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome