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
Eruptive xanthomas

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APOC219q13.32100%gene with protein product608083Autosomal recessive inheritance; Eruptive xanthomas; Hepatomegaly; Hypertriglyceridemia; Lipemia retinalis; Pancreatitis; Splenomegaly
GPIHBP18q24.3100%gene with protein product612757Acute pancreatitis; Autosomal recessive inheritance; Episodic abdominal pain; Eruptive xanthomas; Failure to thrive; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hyperlipoproteinemia; Hypertriglyceridemia; Increased circulating chylomicron levels; Lipemia retinalis; Recurrent pancreatitis; Splenomegaly
LIPC15q21.399.92%gene with protein product151670Angina pectoris; Autosomal recessive inheritance; Eruptive xanthomas; Hypertriglyceridemia; Increased circulating high-density lipoprotein levels; Premature coronary artery atherosclerosis
LIPC15q21.399.92%gene with protein product151670Angina pectoris; Autosomal recessive inheritance; Eruptive xanthomas; Hypertriglyceridemia; Increased circulating high-density lipoprotein levels; Premature coronary artery atherosclerosis
LMF116p13.3100%gene with protein product611761C16orf26, TMEM112Abnormality of metabolism/homeostasis; Acute pancreatitis; Autosomal recessive inheritance; Episodic abdominal pain; Eruptive xanthomas; Hepatic steatosis; Hepatosplenomegaly; Hypertriglyceridemia; Increased circulating chylomicron levels; Lipemia retinalis; Recurrent pancreatitisObesity
LPL8p21.399.86%gene with protein product609708LIPDAutosomal dominant inheritance; Autosomal recessive inheritance; Episodic abdominal pain; Eruptive xanthomas; Hepatosplenomegaly; Hypercholesterolemia; Increased circulating chylomicron levels; Increased circulating low-density lipoprotein levels; Increased circulating very-low-density lipoprotein levels; Jaundice; Lactescent serum; Lipemia retinalis; Myocardial infarction; Nausea; Pancreatitis; Splenomegaly; Vomiting


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