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.


OR

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

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Anemia of inadequate production

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
COX4I220q11.21100%gene with protein product607976COX4L2Allergic rhinitis; Anemia of inadequate production; Asthma; Autosomal recessive inheritance; Calvarial hyperostosis; Carious teeth; Delayed skeletal maturation; Exocrine pancreatic insufficiency; Failure to thrive; Global developmental delay; Hepatomegaly; Infantile onset; Jaundice; Malnutrition; Osteopenia; Skin rash; Splenomegaly; Steatorrhea
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
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
RPL2617p13.1100%gene with protein product603704Abnormal eyelid morphology; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Anemia; Anemia of inadequate production; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Bicuspid aortic valve; Bone marrow hypocellularity; Cleft palate; Delayed puberty; Fatigue; Forearm reduction defects; Hypoplasia of the radius; Hypoplasia of the ulna; Macrocytic anemia; Migraine; Neutropenia; Pallor; Renal agenesis; Short stature; Stenosis of the external auditory canalBone Marrow Failure Syndromes
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


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