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
Absent gallbladder

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
RFX66q22.199.63%gene with protein product612659RFXDC1Absent gallbladder; Acholic stools; Autosomal recessive inheritance; Biliary atresia; Diarrhea; Duodenal atresia; Hyperbilirubinemia; Hyperglycemia; Intestinal malrotation; Intrauterine growth retardation; Jejunal atresia; Malabsorption; Pancreatic hypoplasia
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development


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