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
Short lingual frenulum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
FREM19p22.3100%gene with protein product608944C9orf154Abnormal hair pattern; Abnormality of the 5th toe; Abnormality of the hair; Abnormality of the kidney; Anal stenosis; Anophthalmia; Anteriorly placed anus; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nose; Bulbous nose; Eyelid coloboma; Hypertelorism; Hypotelorism; Metopic synostosis; Microphthalmia; Nasolacrimal duct obstruction; Omphalocele; Prominent supraorbital ridges; Rectovaginal fistula; Renal agenesis; Short lingual frenulum; Short philtrum; Synophrys; Trigonocephaly; Upper eyelid coloboma; Wide nasal bridgeCongenital Kidney and Urinary Tract (CKUT) Anomalies; Ectodermal Dysplasia ; Fanconi Anemia
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