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
Generalized amyloid deposition

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APOA111q23.3100%gene with protein product107680Abnormality of the liver; Anemia; Autosomal dominant inheritance; Blurred vision; Cholestasis; Corneal opacity; Decreased circulating high-density lipoprotein levels; Edema; EMG abnormality; Generalized amyloid deposition; Hematuria; Hemiplegia/hemiparesis; Hepatomegaly; Hypertension; Lymphadenopathy; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenomegaly; Xanthomatosis
B2M15q21.1100%gene with protein product109700Autonomic bladder dysfunction; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowel incontinence; Bronchiectasis; Cholestasis; Chronic constipation; Chronic diarrhea; Edema; Gastrointestinal dysmotility; Gastrointestinal hemorrhage; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Hypoalbuminemia; Hypoplasia of the ulna; Hypoproteinemia; IgG deficiency; Intermittent diarrhea; Keratoconjunctivitis sicca; Malabsorption; Nephropathy; Nephrotic syndrome; Orthostatic hypotension due to autonomic dysfunction; Proteinuria; Radial bowing; Recurrent respiratory infections; Skin rash; Splenomegaly; Variable expressivity; Vertigo; Weight loss; Xerostomia
CST320p11.21100%gene with protein product604312Autosomal dominant inheritance; Cerebral amyloid angiopathy; Cerebral hemorrhage; Dementia; Generalized amyloid deposition; Intracranial hemorrhage; Stroke
FGA4q31.3100%gene with protein product134820Abnormal bleeding; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholestasis; Edema; Epistaxis; Gastrointestinal hemorrhage; Generalized amyloid deposition; Gingival bleeding; Hematuria; Hepatomegaly; Hypertension; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenic rupture; Splenomegaly; Spontaneous abortion; Venous thrombosis
GSN9q33.299.99%gene with protein product137350Abnormality of abdomen morphology; Adult onset; Autosomal dominant inheritance; Bulbar palsy; Cardiac amyloidosis; Cardiomyopathy; Cutis laxa; Generalized amyloid deposition; Lattice corneal dystrophy; Nephrotic syndrome; Polyneuropathy; Renal insufficiencyNephrotic Syndrome
LYZ12q15100%gene with protein product153450Autosomal dominant inheritance; Cholestasis; Edema; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenomegaly


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