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
Stomatitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CD40LGXq26.399.75%gene with protein product300386HIGM1, IMD3, TNFSF5Absence of lymph node germinal center; Chronic hepatitis; Decreased T cell activation; Diarrhea; Dysgammaglobulinemia; Enlarged tonsils; Gingivitis; Hemolytic anemia; Hepatitis; Hepatomegaly; IgA deficiency; IgE deficiency; IgG deficiency; Immunodeficiency; Impaired Ig class switch recombination; Impaired memory B cell generation; Increased IgM level; Neutropenia; Recurrent bacterial infections; Splenomegaly; Stomatitis; Thrombocytopenia; X-linked recessive inheritanceAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
IL1RN2q14.1100%gene with protein product147679Arthralgia; Autosomal recessive inheritance; Epidermal acanthosis; Fetal distress; Hepatomegaly; Hyperkeratosis; Joint swelling; Osteomyelitis; Periostitis; Splenomegaly; Stomatitis
LMBRD16q1397.31%gene with protein product612625C6orf209Ataxia; Autosomal recessive inheritance; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Developmental regression; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Glossitis; High palate; Homocystinuria; Hyperhomocystinemia; Incoordination; Infantile onset; Lethargy; Low-set ears; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Microtia; Muscular hypotonia; Neutropenia; Pancytopenia; Psychosis; Seizures; Skin rash; Stomatitis; Thin upper lip vermilion; Thrombocytopenia
LMBRD16q1397.31%gene with protein product612625C6orf209Ataxia; Autosomal recessive inheritance; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Developmental regression; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Glossitis; High palate; Homocystinuria; Hyperhomocystinemia; Incoordination; Infantile onset; Lethargy; Low-set ears; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Microtia; Muscular hypotonia; Neutropenia; Pancytopenia; Psychosis; Seizures; Skin rash; Stomatitis; Thin upper lip vermilion; Thrombocytopenia
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis


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