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
Epidermoid cyst

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
KRT1617q21.2100%gene with protein product148067Abnormal blistering of the skin; Abnormality of nail color; Abnormality of the fingernails; Autosomal dominant inheritance; Carious teeth; Eczema; Epidermoid cyst; Erythema; Follicular hyperkeratosis; Heterogeneous; Hyperhidrosis; Ichthyosis; Localized epidermolytic hyperkeratosis; Nail dystrophy; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Thick nail; VerrucaeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1717q21.2100%gene with protein product148069PCHC1Abnormal blistering of the skin; Abnormality of nail color; Adenoma sebaceum; Autosomal dominant inheritance; Carious teeth; Dry hair; Epidermoid cyst; Folliculitis; Heterogeneous; Hoarse voice; Hyperhidrosis; Ichthyosis; Nail dysplasia; Nail dystrophy; Natal tooth; Oral leukoplakia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Sparse and thin eyebrow; Sparse scalp hair; Steatocystoma multiplex; Subungual hyperkeratosis; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT1717q21.2100%gene with protein product148069PCHC1Abnormal blistering of the skin; Abnormality of nail color; Adenoma sebaceum; Autosomal dominant inheritance; Carious teeth; Dry hair; Epidermoid cyst; Folliculitis; Heterogeneous; Hoarse voice; Hyperhidrosis; Ichthyosis; Nail dysplasia; Nail dystrophy; Natal tooth; Oral leukoplakia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Sparse and thin eyebrow; Sparse scalp hair; Steatocystoma multiplex; Subungual hyperkeratosis; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT6A12q13.13100%gene with protein product148041KRT6C, KRT6DAbnormal blistering of the skin; Abnormality of nail color; Carious teeth; Chapped lip; Epidermoid cyst; Furrowed tongue; Gingivitis; Hyperhidrosis; Ichthyosis; Nail dystrophy; Onychogryposis of toenails; Oral leukoplakia; Palmar hyperkeratosis; Palmoplantar keratoderma; Plantar hyperkeratosis; Skin plaque; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT6A12q13.13100%gene with protein product148041KRT6C, KRT6DAbnormal blistering of the skin; Abnormality of nail color; Carious teeth; Chapped lip; Epidermoid cyst; Furrowed tongue; Gingivitis; Hyperhidrosis; Ichthyosis; Nail dystrophy; Onychogryposis of toenails; Oral leukoplakia; Palmar hyperkeratosis; Palmoplantar keratoderma; Plantar hyperkeratosis; Skin plaque; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
KRT6B12q13.13100%gene with protein product148042KRTL1Abnormal blistering of the skin; Abnormality of nail color; Autosomal dominant inheritance; Carious teeth; Epidermoid cyst; Hyperhidrosis; Ichthyosis; Nail dystrophy; Oral leukoplakia; Palmoplantar keratoderma; Skin plaque; Steatocystoma multiplex; Thick nailPalmoplantar 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