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
High-frequency hearing impairment

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DSPP4q22.1100%gene with protein product125485DFNA39, DGI1Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Dentinogenesis imperfecta; Dentinogenesis imperfecta limited to primary teeth; High-frequency hearing impairment; Periapical bone loss; Pulp stones; Shell teeth; Tinnitus
GJB31p34.3100%gene with protein product603324DFNA2, EKVAbnormal blistering of the skin; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Digenic inheritance; Dry skin; Epidermal acanthosis; Erythema; Generalized hyperkeratosis; Glaucoma; High-frequency hearing impairment; Hypergranulosis; Hypermelanotic macule; Infantile onset; Microcephaly; Patchy palmoplantar keratoderma; Sensorineural hearing impairment; Short stature; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
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; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
RPGRXp11.499.06%gene with protein productDue to sequence complexity, sensitivity to variants in the ORF15 region may be limited.312610CRD, RP3, RP15, COD1Abnormal electroretinogram; Abnormality of color vision; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atelectasis; Atypical scarring of skin; Blindness; Cataract; Chronic sinusitis; Conductive hearing impairment; Cone dysfunction syndrome; Cone/cone-rod dystrophy; Dyschromatopsia; Exotropia; Glaucoma; High-frequency hearing impairment; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular scar; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Otitis media; Pendular nystagmus; Photophobia; Progressive night blindness; Recurrent bronchitis; Recurrent Haemophilus influenzae infections; Recurrent respiratory infections; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceHeterotaxy


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