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
Orbital cyst

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PTCH19q22.32100%gene with protein product601309NBCCS, PTCHAbnormality of the neck; Abnormality of the ribs; Abnormality of the sternum; Absent nasal septal cartilage; Accelerated skeletal maturation; Agenesis of corpus callosum; Alobar holoprosencephaly; Arnold-Chiari malformation; Autosomal dominant inheritance; Basal cell carcinoma; Bifid ribs; Bilateral cleft lip and palate; Bilateral microphthalmos; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Delayed eruption of teeth; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Flat nasal alae; Flat occiput; Frontal bossing; Fusion of the left and right thalami; Glaucoma; Global developmental delay; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the premaxilla; Hypotelorism; Incomplete penetrance; Intellectual disability; Iris coloboma; Irregular ossification of hand bones; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large for gestational age; Long philtrum; Low-set ears; Macrocephaly; Macrotia; Mandibular prognathia; Median cleft lip and palate; Medulloblastoma; Melanocytic nevus; Metopic synostosis; Microphthalmia; Midface retrusion; Midline defect of the nose; Milia; Motor delay; Muscular hypotonia; Narrow mouth; Neoplasm; Odontogenic keratocysts of the jaw; Oral cleft; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Panhypopituitarism; Parietal bossing; Pectus excavatum; Plantar pits; Polydactyly; Retinopathy; Scoliosis; Seizures; Semilobar holoprosencephaly; Short 4th metacarpal; Short distal phalanx of the thumb; Short neck; Short nose; Short ribs; Single median maxillary incisor; Skin tags; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Tall stature; Thickened ears; Trigonocephaly; Umbilical hernia; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Vertebral fusion; Vertebral wedging; Wide nasal bridge
PTCH21p34.199.98%gene with protein product603673Abnormality of the neck; Abnormality of the sternum; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal cell carcinoma; Bifid ribs; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Down-sloping shoulders; Frontal bossing; Glaucoma; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hypertelorism; Incomplete penetrance; Iris coloboma; Irregular ossification of hand bones; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Medulloblastoma; Melanocytic nevus; Microphthalmia; Milia; Motor delay; Neoplasm; Odontogenic keratocysts of the jaw; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Parietal bossing; Plantar pits; Polydactyly; Scoliosis; Short 4th metacarpal; Short distal phalanx of the thumb; Short ribs; Skin tags; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Variable expressivity; Vertebral fusion; Vertebral wedging; Wide nasal bridge
SUFU10q24.32100%gene with protein product607035Abnormality of the neck; Abnormality of the sternum; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal cell carcinoma; Bifid ribs; Brachydactyly; Bridged sella turcica; Broad face; Calcification of falx cerebri; Cardiac fibroma; Cardiac rhabdomyoma; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Coarse facial features; Dandy-Walker malformation; Down-sloping shoulders; Frontal bossing; Glaucoma; Hamartomatous stomach polyps; Hemivertebrae; Heterogeneous; Hydrocephalus; Hypertelorism; Incomplete penetrance; Intellectual disability, severe; Iris coloboma; Irregular ossification of hand bones; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Medulloblastoma; Melanocytic nevus; Microphthalmia; Milia; Motor delay; Neoplasm; Odontogenic keratocysts of the jaw; Orbital cyst; Ovarian carcinoma; Ovarian fibroma; Palmar pits; Parietal bossing; Plantar pits; Polydactyly; Postaxial hand polydactyly; Prominent occiput; Scoliosis; Short 4th metacarpal; Short distal phalanx of the thumb; Short ribs; Skin tags; Sloping forehead; Spina bifida; Sprengel anomaly; Strabismus; Supernumerary ribs; Triphalangeal thumb; Variable expressivity; Vertebral fusion; Vertebral wedging; Wide nasal bridge


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