XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Reticulocytosis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCG52p2199.88%gene with protein product605459Abdominal pain; Abnormal bleeding; Abnormal internal carotid artery morphology; Abnormality of the integument; Abnormality of the liver; Angina pectoris; Aortic atherosclerosis; Arthralgia; Arthritis; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Chronic hemolytic anemia; Coronary artery atherosclerosis; Dyspnea; Episodic hemolytic anemia; Giant platelets; Heart murmur; Hepatic steatosis; Hyperapobetalipoproteinemia; Hypercholesterolemia; Hyperlipidemia; Hypertension; Impaired platelet aggregation; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Reticulocytosis; Splenomegaly; Stomatocytosis; Sudden cardiac deathHemolytic Anemia
ABCG82p21100%gene with protein product605460Abdominal pain; Abnormal bleeding; Abnormal internal carotid artery morphology; Abnormality of the integument; Abnormality of the liver; Angina pectoris; Aortic atherosclerosis; Arthralgia; Arthritis; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Chronic hemolytic anemia; Coronary artery atherosclerosis; Dyspnea; Episodic hemolytic anemia; Giant platelets; Heart murmur; Hepatic steatosis; Hyperapobetalipoproteinemia; Hypercholesterolemia; Hyperlipidemia; Hypertension; Impaired platelet aggregation; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Reticulocytosis; Splenomegaly; Stomatocytosis; Sudden cardiac deathHemolytic Anemia
ADAMTS139q34.2100%gene with protein product604134C9orf8Autosomal recessive inheritance; Confusion; Elevated serum creatinine; Fever; Hemolytic-uremic syndrome; Heterogeneous; Increased blood urea nitrogen; Increased serum lactate; Microangiopathic hemolytic anemia; Microscopic hematuria; Prolonged neonatal jaundice; Proteinuria; Reticulocytosis; Schistocytosis; Thrombocytopenia; TremorHemolytic Anemia
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
C15ORF4115q14100%gene with protein product615626Anemia of inadequate production; Anisocytosis; Autosomal recessive inheritance; Erythroid hyperplasia; Hepatomegaly; Jaundice; Pallor; Poikilocytosis; Reticulocytosis; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
CDAN115q15.299.99%gene with protein product607465Anisocytosis; Autosomal recessive inheritance; Endopolyploidy on chromosome studies of bone marrow; Erythroid hyperplasia; Hydrops fetalis; Macrocytic dyserythropoietic anemia; Mild postnatal growth retardation; Poikilocytosis; Prolonged neonatal jaundice; Reduced activity of N-acetylglucosaminyltransferase II; Reticulocytosis; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
G6PDXq2899.99%gene with protein product305900Autosomal dominant inheritance; Fava bean-induced hemolytic anemia; Prolonged neonatal jaundice; Reticulocytosis; Unconjugated hyperbilirubinemia; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
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
KCNN419q13.31100%gene with protein product602754Acanthocytosis; Anisopoikilocytosis; Autosomal dominant inheritance; Hemolytic anemia; Hepatomegaly; Hyperbilirubinemia; Increased mean corpuscular volume; Jaundice; Reticulocytosis; Splenomegaly
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
PFKM12q13.11100%gene with protein product610681PFKXAnemia; Autosomal recessive inheritance; Cholelithiasis; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Gout; Hemolytic anemia; Hyperuricemia; Increased muscle glycogen content; Increased total bilirubin; Jaundice; Muscle weakness; Myotonia; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reticulocytosis; Skeletal muscle atrophy; Variable expressivityHemolytic Anemia ; Rhabdomyolysis
PGK1Xq21.199.85%gene with protein product311800Ataxia; Delayed speech and language development; Emotional lability; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Intellectual disability; Migraine; Phenotypic variability; Reticulocytosis; Rhabdomyolysis; Seizures; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
PIEZO116q24.3100%gene with protein product611184FAM38AAscites; Autosomal dominant inheritance; Autosomal recessive inheritance; Cupped ear; Exercise-induced hemolysis; Facial edema; Gastroesophageal reflux; Generalized edema; Genital edema; Global developmental delay; Hearing impairment; Hydrocele testis; Hypothyroidism; Increased red cell hemolysis by shear stress; Lymphedema; Nonimmune hydrops fetalis; Pectus excavatum; Periorbital edema; Phenotypic variability; Polyhydramnios; Reticulocytosis; Scoliosis; Splenomegaly; Varicose veins; Webbed neckHemolytic Anemia
PKLR1q22100%gene with protein product609712Abnormality of the amniotic fluid; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congenital hemolytic anemia; Hydrops fetalis; Increased red cell osmotic fragility; Increased serum ferritin; Increased serum iron; Jaundice; Polycythemia; Prolonged neonatal jaundice; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reduced red cell pyruvate kinase activity; Reticulocytosis; Splenomegaly; Unconjugated hyperbilirubinemiaHemolytic Anemia
PKLR1q22100%gene with protein product609712Abnormality of the amniotic fluid; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congenital hemolytic anemia; Hydrops fetalis; Increased red cell osmotic fragility; Increased serum ferritin; Increased serum iron; Jaundice; Polycythemia; Prolonged neonatal jaundice; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reduced red cell pyruvate kinase activity; Reticulocytosis; Splenomegaly; Unconjugated hyperbilirubinemiaHemolytic Anemia
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
SEC23B20p11.2399.89%gene with protein product610512CDAN2Abnormality of the penis; Adenoma sebaceum; Anemia of inadequate production; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Cavernous hemangioma; Cholelithiasis; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Ductal carcinoma in situ; Endopolyploidy on chromosome studies of bone marrow; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Hamartomatous polyposis; Hashimoto thyroiditis; Hemangioma; Intellectual disability; Intestinal polyposis; Jaundice; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Palmoplantar keratoderma; Papilloma; Papule; Reduced activity of N-acetylglucosaminyltransferase II; Reticulocytosis; Splenomegaly; Subcutaneous nodule; TrichilemmomaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
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
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
SLC4A1120p13100%gene with protein product610206CHED2, CDPD1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital corneal dystrophy; Corneal dystrophy; Corneal opacity; Hemolytic anemia; Nystagmus; Opacification of the corneal stroma; Reticulocytosis; Sensorineural hearing impairment; Splenomegaly; Stomatocytosis; Visual impairment
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


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