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
Angioedema

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DNASE1L33p14.3100%gene with protein product602244Abdominal pain; Angioedema; Arthritis; Autoimmunity; Autosomal recessive inheritance; Complement deficiency; Conjunctivitis; Cough; Dyspnea; Episcleritis; Glomerulopathy; Hematuria; Hemoptysis; Irregular hyperpigmentation; Nausea and vomiting; Nephritis; Proteinuria; Pruritus; Renal insufficiency; Skin rash; Small vessel vasculitis; Systemic lupus erythematosus; Uveitis
F125q35.3100%gene with protein product610619Angioedema; Autosomal dominant inheritance; Autosomal recessive inheritance; Episodic abdominal pain; Episodic upper airway obstruction; Facial edema; Intestinal edema; Pharyngeal edema; Prolonged partial thromboplastin time; Prolonged whole-blood clotting time; Reduced factor XII activity; VomitingAutoimmune Disorders ; Common Variable Immune Deficiency
SERPING111q12.1100%gene with protein product606860C1NHAbdominal pain; Abnormality of salivation; Abnormality of the larynx; Angioedema; Autoimmunity; Autosomal dominant inheritance; Dermatographic urticaria; Diarrhea; Dysphagia; Edema of the dorsum of hands; Erythema; Facial edema; Intestinal edema; Laryngeal edema; Limbal edema; Nausea; Paresthesia; Peripheral axonal neuropathy; Pharyngeal edema; Systemic lupus erythematosus; Tongue edema; VomitingPrimary Immunodeficiency
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis


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