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
Recurrent ear infections

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
IDUA4p16.3100%gene with protein product252800Abnormal CNS myelination; Abnormal diaphysis morphology; Abnormal heart valve morphology; Abnormal nerve conduction velocity; Abnormal pyramidal signs; Abnormal vertebral morphology; Abnormality of epiphysis morphology; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the ribs; Abnormality of the tonsils; Anteverted nares; Aortic regurgitation; Aortic valve stenosis; Autosomal recessive inheritance; Biconcave vertebral bodies; Broad face; Broad nasal tip; Calvarial hyperostosis; Camptodactyly of finger; Cardiomyopathy; Cerebral palsy; Chronic diarrhea; Coarse facial features; Constrictive median neuropathy; Corneal opacity; Coxa valga; Death in infancy; Depressed nasal bridge; Depressivity; Diaphyseal thickening; Dolichocephaly; Dysostosis multiplex; Enlarged tonsils; Everted lower lip vermilion; Feeding difficulties; Flared iliac wings; Flexion contracture; Frontal bossing; Full cheeks; Generalized hirsutism; Genu valgum; Gingival overgrowth; Glaucoma; Global developmental delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hernia; Hirsutism; Hydrocephalus; Hypertension; Hypoplasia of the femoral head; Hypoplasia of the odontoid process; Inguinal hernia; Intellectual disability; J-shaped sella turcica; Joint stiffness; Kyphosis; Large face; Limitation of joint mobility; Macrocephaly; Macroglossia; Mandibular prognathia; Microdontia; Micrognathia; Mitral regurgitation; Mucopolysacchariduria; Muscular hypotonia; Narrow pelvis bone; Neurodegeneration; Obstructive sleep apnea; Opacification of the corneal stroma; Pes cavus; Progressive neurologic deterioration; Pulmonary arterial hypertension; Recurrent ear infections; Recurrent respiratory infections; Retinopathy; Rhinitis; Scoliosis; Sensorineural hearing impairment; Short clavicles; Short neck; Short stature; Skeletal dysplasia; Sleep disturbance; Spinal canal stenosis; Splenomegaly; Thick eyebrow; Thick vermilion border; Tracheal stenosis; Umbilical hernia; Urinary glycosaminoglycan excretion; Wide nasal bridge; Wide nose
LEP7q32.1100%gene with protein product164160OBS, OBAbsence of secondary sex characteristics; Accelerated skeletal maturation; Autosomal recessive inheritance; Decreased proportion of CD4-positive T cells; Decreased serum estradiol; Decreased serum leptin; Decreased T cell activation; Decreased testicular size; Decreased testosterone in males; Gynecomastia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hypertriglyceridemia; Hypogonadism; Hypoplasia of the ovary; Insulin-resistant diabetes mellitus; Micropenis; Obesity; Orthostatic hypotension due to autonomic dysfunction; Pituitary hypothyroidism; Polyphagia; Primary amenorrhea; Recurrent ear infections; Recurrent pneumonia; Recurrent upper respiratory tract infectionsObesity
PIK3CD1p36.22100%gene with protein product602839Autosomal dominant inheritance; Bronchiectasis; Cellulitis; Decreased antibody level in blood; Immunodeficiency; Lymphadenopathy; Recurrent ear infections; Recurrent sinopulmonary infections; SplenomegalyAutoimmune Disorders ; Inflammatory Bowel Disease


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