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
Snoring

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AHDC11p36.11-p35.99.94%gene with protein product615790Autosomal dominant inheritance; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Downslanted palpebral fissures; Esotropia; Failure to thrive; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Laryngomalacia; Low-set ears; Micrognathia; Obstructive sleep apnea; Snoring; Uplifted earlobe; Upslanted palpebral fissure
GNAI31p13.3100%gene with protein product139370Anterior open-bite malocclusion; Apnea; Autosomal dominant inheritance; Chewing difficulties; Cleft at the superior portion of the pinna; Cleft palate; Cupped ear; Dental crowding; Dental malocclusion; Hypoplastic superior helix; Low-set ears; Macrocephaly; Mandibular condyle aplasia; Mandibular condyle hypoplasia; Overfolding of the superior helices; Postauricular skin tag; Posteriorly rotated ears; Preauricular skin tag; Round face; Snoring; Speech articulation difficultiesAlbinism
GPR101Xq26.3100%gene with protein product300393Abnormal toenail morphology; Abnormality of the fingernails; Acanthosis nigricans; Accelerated skeletal maturation; Anterior hypopituitarism; Anxiety; Arthralgia; Broad foot; Broad forehead; Broad jaw; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Fatigue; Frontal bossing; Full cheeks; Generalized hirsutism; Growth hormone excess; Hoarse voice; Hyperhidrosis; Hypertension; Joint swelling; Kyphosis; Large hands; Long face; Long foot; Long penis; Macrodactyly; Macroglossia; Macrotia; Mandibular prognathia; Migraine; Osteoarthritis; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary prolactin cell adenoma; Polyphagia; Sleep apnea; Snoring; Spinal canal stenosis; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Ventricular hypertrophy; Wide nose; Widely spaced teeth; X-linked dominant inheritance
PLCB420p12.3-p12.99.91%gene with protein product600810Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft at the superior portion of the pinna; Cleft palate; Dental crowding; Dental malocclusion; Hypoplastic superior helix; Low-set ears; Mandibular condyle aplasia; Mandibular condyle hypoplasia; Overfolding of the superior helices; Posteriorly rotated ears; Round face; Snoring; Speech articulation difficulties


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