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
Pulmonary valve atresia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
PIGL17p11.2100%gene with protein product605947Abnormal dermatoglyphics; Abnormality of epiphysis morphology; Abnormality of the outer ear; Acute lymphoblastic leukemia; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplastic clavicles; Autosomal recessive inheritance; Brachycephaly; Broad-based gait; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Conductive hearing impairment; Corneal opacity; Depressed nasal bridge; Depressed nasal ridge; Duplicated collecting system; Epicanthus; Erythema; Fine hair; Frontal bossing; Generalized hypotonia; Hearing impairment; Hydronephrosis; Hypertelorism; Hypodontia; Hypoplastic nipples; Ichthyosis; Increased number of teeth; Intellectual disability; Joint contracture of the hand; Large for gestational age; Large hands; Long foot; Low-set nipples; Microdontia; Overfolded helix; Palmoplantar hyperkeratosis; Peripheral pulmonary artery stenosis; Prominent forehead; Ptosis; Pulmonary valve atresia; Retinal coloboma; Seizures; Short foot; Short palm; Short philtrum; Sparse hair; Strabismus; Tall stature; Tetralogy of Fallot; Thick lower lip vermilion; Thick vermilion border; Transposition of the great arteries; Upslanted palpebral fissure; Ureteropelvic junction obstruction; Ventricular septal defect; Violent behavior; Webbed neck; Wide mouth; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Palmoplantar 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