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 bronchitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARMC410p12.197.03%gene with protein product615408Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
CCDC15119p13.2100%gene with protein product615956Asthma; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Cough; Nasal obstruction; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Respiratory insufficiency due to defective ciliary clearance; Situs inversus totalisHeterotaxy
CCDC6512q13.12100%gene with protein product611088Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; SinusitisHeterotaxy
CFAP29821q22.1199.97%gene with protein product615494C21orf48, C21orf59Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Infertility; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
DNAAF57p22.399.92%gene with protein productFormer name = HEATR2614864HEATR2Abnormal ciliary motility; Absent outer dynein arms; Autosomal recessive inheritance; Chronic bronchitis; Ciliary dyskinesia; Infantile onset; Male infertility; Nonmotile sperm; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Situs inversus totalisHeterotaxy
DNMT3B20q11.21100%gene with protein product602900Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Bronchiectasis; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Decrease in T cell count; Decreased antibody level in blood; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Flat face; Global developmental delay; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Micrognathia; Pneumonia; Protruding tongue; Recurrent respiratory infections; Short nose; Short stature; Sinusitis
LRRC68q24.2298.29%gene with protein product614930Absent inner and outer dynein arms; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Immotile cilia; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Situs inversus totalisHeterotaxy
SCNN1A12p13100%gene with protein product600228SCNN1Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal salt wasting; Vomiting
SCNN1B16p12.2-p12.100%gene with protein product600760Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SCNN1G16p12.2100%gene with protein product600761Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SPAG18q22.299.45%gene with protein product603395Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy
ZBTB246q21100%gene with protein product614064ZNF450Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Congenital onset; Decreased antibody level in blood; Depressed nasal bridge; Epicanthus; Global developmental delay; Growth delay; High palate; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Malabsorption; Micrognathia; Motor delay; Pneumonia; Recurrent respiratory infections; Retrognathia; Round face; Short chin; Short nose; Short stature
ZMYND103p21.31100%gene with protein product607070Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Ciliary dyskinesia; Infertility; Nasal polyposis; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Reduced sperm motility; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Sinusitis; Situs inversus totalisHeterotaxy


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