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
Chronic sinusitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CCDC10317q21.31100%gene with protein product614677Abnormal respiratory motile cilium morphology; Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Congenital onset; Recurrent respiratory infectionsHeterotaxy
CCDC393q26.3399.75%gene with protein product613798Abnormal axonemal organization of respiratory motile cilia; Abnormal ciliary motility; Absent inner dynein arms; Autosomal recessive inheritance; Bronchiectasis; Chronic sinusitis; Ciliary dyskinesia; Infertility; Otitis media; Recurrent respiratory infectionsHeterotaxy
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
DNAAF214q21.3100%gene with protein product612517C14orf104Abnormal respiratory motile cilium morphology; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Ciliary dyskinesia; Recurrent respiratory infections; Recurrent sinusitis; Situs inversus totalisHeterotaxy
DNAI19p13.3100%gene with protein product604366Abnormal cornea morphology; Abnormal respiratory motile cilium morphology; Absent frontal sinuses; Anosmia; Asplenia; Autosomal recessive inheritance; Bronchiectasis; Chronic otitis media; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Communicating hydrocephalus; Conductive hearing impairment; Headache; Heterogeneous; Immotile cilia; Male infertility; Nasal polyposis; Pneumonia; Recurrent respiratory infections; Sinusitis; Situs inversus totalisHeterotaxy
DNAL114q24.395.09%gene with protein product610062C14orf168Abnormal ciliary motility; Absent outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Chronic otitis media; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Congenital onset; Recurrent respiratory infections; Situs inversus totalisHeterotaxy
DRC12p23.3100%gene with protein productformer name = CCDC164 or C2ORF39615288C2orf39, CCDC164Atelectasis; Autosomal recessive inheritance; Bronchiectasis; Chronic sinusitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; SinusitisHeterotaxy
MGP12p12.394.51%gene with protein product154870Autosomal recessive inheritance; Calcification of cartilage; Calcification of the auricular cartilage; Cartilaginous ossification of larynx; Cartilaginous ossification of nose; Cerebral calcification; Chronic sinusitis; Costal cartilage calcification; Deep philtrum; Depressed nasal bridge; Epiphyseal stippling; Global developmental delay; Growth abnormality; Hearing impairment; Intellectual disability, mild; Long face; Macrotia; Malar flattening; Midface retrusion; Nasal speech; Peripheral pulmonary artery stenosis; Premature fusion of phalangeal epiphyses; Pulmonary arterial hypertension; Pulmonary artery hypoplasia; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent bronchitis; Recurrent otitis media; Recurrent sinusitis; Seizures; Short distal phalanx of finger; Short hallux; Short thumb; Sloping forehead; Spontaneous abortion; Tracheal atresia; Underdeveloped nasal alae; Ventricular septal defect; Wide nose
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
RSPH96p21.1100%gene with protein product612648MRPS18AL1, C6orf206Abnormal central microtubular pair morphology of respiratory motile cilia; Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Exercise intolerance; Nonmotile sperm; Recurrent respiratory infections; Short statureHeterotaxy
TAP16p21.32100%gene with protein product170260ABCB2Autosomal recessive inheritance; Bronchiectasis; Bronchiolitis; Chronic otitis media; Chronic sinusitis; Ectopia lentis; Emphysema; Nasal polyposis; Recurrent bronchitis; Skin ulcer
TAP26p21.32100%gene with protein product170261ABCB3Autosomal recessive inheritance; Bronchiectasis; Bronchiolitis; Chronic otitis media; Chronic sinusitis; Ectopia lentis; Emphysema; Nasal polyposis; Recurrent bronchitis; Skin ulcer
TAPBP6p21.32100%gene with protein product601962Autosomal recessive inheritance; Bronchiectasis; Bronchiolitis; Chronic otitis media; Chronic sinusitis; Ectopia lentis; Emphysema; Nasal polyposis; Recurrent bronchitis; Skin ulcer
TTC2517q21.262.89%gene with protein product617095Autosomal recessive inheritance; Bronchiectasis; Chronic rhinitis; Chronic sinusitis; Congenital onset; Nasal polyposis; Recurrent respiratory infections


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