XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

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  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-AlportAlport Syndrome
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-PPK/CIPalmoplantar keratoderma / congenital ichthyosis
CS-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome

 
Hemolytic Anemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB62q35100%gene with protein product605452Autosomal dominant inheritance; Coloboma; Cutaneous photosensitivity; Freckling; Hearing impairment; Hyperkalemia; Hypermelanotic macule; Hypertension; Multiple cafe-au-lait spots; Spotty hypopigmentation; StomatocytosisHemolytic Anemia
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
AK19q34.11100%gene with protein product103000Autosomal recessive inheritance; Hemolytic anemiaHemolytic Anemia
ALDOA16p11.2100%gene with protein product103850Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Delayed puberty; Epicanthus; Jaundice; Low posterior hairline; Nonspherocytic hemolytic anemia; Normochromic anemia; Normocytic anemia; Ptosis; Short neck; Short stature; SplenomegalyHemolytic Anemia ; Rhabdomyolysis
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
ATP11CXq27.199.72%gene with protein product300516Hemolytic Anemia
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
CD5911p13100%gene with protein product107271MIC11, MIN1, MSK21, MIN2, MIN3Areflexia; Autosomal recessive inheritance; Generalized hypotonia; Hemolytic anemia; Increased CSF protein; Infantile onset; Limb muscle weakness; Paroxysmal nocturnal hemoglobinuria; Skeletal muscle atrophyHemolytic 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
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
EPB411p35.3100%gene with protein product130500EL1Autosomal dominant inheritance; Elliptocytosis; Hemolytic anemiaHemolytic Anemia
EPB4215q15.2100%gene with protein product177070Autosomal recessive inheritance; Hemolytic anemia; SpherocytosisHemolytic Anemia
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
GCLC6p12.199.93%gene with protein product606857GLCLC, GLCLAbnormality of metabolism/homeostasis; Anemia; Autosomal recessive inheritance; Hemolytic anemia; Late-onset spinocerebellar degeneration; Myopathy; PolyneuropathyHemolytic Anemia
GPI19q13.11100%gene with protein product172400Ataxia; Autosomal recessive inheritance; Cholecystitis; Decreased glucosephosphate isomerase activity; Impaired neutrophil bactericidal activity; Intellectual disability; Jaundice; Muscle weakness; Nonspherocytic hemolytic anemia; Pigment gallstones; Sensory ataxia; Splenomegaly; Spontaneous hemolytic crisesHemolytic Anemia
GPX13p21.3199.83%gene with protein product138320Autosomal recessive inheritance; Compensated hemolytic anemia; Neonatal hyperbilirubinemiaHemolytic Anemia
GSR8p1299.9%gene with protein product138300Hemolytic Anemia
GSS20q11.22100%gene with protein product601002Ataxia; Autosomal recessive inheritance; Chronic metabolic acidosis; Dysarthria; Glutathione synthetase deficiency; Glyoxalase deficiency; Hemolytic anemia; Increased level of L-pyroglutamic acid in urine; Intellectual disability; Intention tremor; Neutropenia; Pigmentary retinopathy; Psychotic mentation; Seizures; Spastic tetraparesisHemolytic Anemia
HBA116p13.394.95%gene with protein product141800Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HBA216p13.371.52%gene with protein product141850Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic 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
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
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAlport Syndrome ; Aplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
NFKB14q24100%gene with protein product164011Anal atresia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bronchitis; Recurrent sinopulmonary infections; Recurrent skin infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency ; Ectodermal Dysplasia ; Hemolytic Anemia
NT5C3A7p14.399.15%gene with protein product606224NT5C3Hemolytic Anemia
PFKL21q22.399.98%gene with protein product171860Hemolytic 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 productSome pseudogene issues311800Ataxia; 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
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
SLC2A11p34.2100%gene with protein product138140GLUT1, GLUT, HTLVR, CSEAbnormal erythrocyte morphology; Absence seizures; Absent speech; Ataxia; Autosomal dominant inheritance; Cataract; Choreoathetosis; Confusion; Cyanosis; Delayed myelination; Delayed speech and language development; Dysarthria; Dystonia; EEG abnormality; Encephalopathy; Extrapyramidal dyskinesia; Generalized hyperreflexia; Global developmental delay; Headache; Hemiparesis; Hemolytic anemia; Hepatomegaly; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoglycorrhachia; Inability to walk; Infantile onset; Intellectual disability; Jaundice; Lethargy; Microcephaly; Muscle stiffness; Nystagmus; Paralysis; Paresthesia; Paroxysmal dyskinesia; Paroxysmal involuntary eye movements; Progressive microcephaly; Seizures; Short stature; Spasticity; Splenomegaly; Status epilepticus; Torsion dystoniaHemolytic 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
SPTA11q23.1100%gene with protein product182860Autosomal dominant inheritance; Autosomal recessive inheritance; Elliptocytosis; Hemolytic anemia; Heterogeneous; Microspherocytosis; Pyropoikilocytosis; SpherocytosisHemolytic Anemia
SPTB14q23.3100%gene with protein product182870Autosomal dominant inheritance; Hemolytic anemia; Hyperbilirubinemia; Jaundice; Reticulocytosis; Spherocytosis; SplenomegalyHemolytic Anemia
TPI112p13.31100%gene with protein product190450Abnormality of immune system physiology; Autosomal recessive inheritance; Central nervous system degeneration; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congestive heart failure; Diaphragmatic paralysis; Dystonia; Generalized hypotonia; Global developmental delay; Hemolytic anemia; Hyporeflexia; Jaundice; Kyphosis; Muscular hypotonia; Myopathy; Normochromic anemia; Normocytic anemia; Peripheral neuropathy; Progressive muscle weakness; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Splenomegaly; Tremor; Unsteady gaitHemolytic Anemia
XKXp21.1100%gene with protein product314850NA, NACAcanthocytosis; Anxiety; Areflexia; Atrial fibrillation; Depressivity; Dilated cardiomyopathy; Dysarthria; Elevated serum creatine phosphokinase; Generalized seizures; Muscle weakness; Obsessive-compulsive behavior; Personality disorder; X-linked inheritanceHemolytic Anemia

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.