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
Crowded carpal bones

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association


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