XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.



If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.



You may also use this search to review average exome sequencing coverage by entering the gene symbol below.


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Place an e-order of this Slice on a specific patient through the GeneDx Portal  
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Radial deviation of the hand

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BGNXq2899.98%gene with protein product301870Anterior wedging of T11; Anterior wedging of T12; Bifid uvula; Brachydactyly; Broad long bone diaphyses; Broad metacarpals; Broad phalanx; Cone-shaped epiphyses fused within their metaphyses; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped metacarpal epiphyses; Coxa valga; Delayed ossification of carpal bones; Disproportionate short-trunk short stature; Downslanted palpebral fissures; Flared iliac wings; Flat acetabular roof; Frontal bossing; Hypertelorism; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Joint hypermobility; Kyphosis; Limited elbow extension; Long fibula; Long ulna; Lumbar hyperlordosis; Malar flattening; Metaphyseal irregularity; Mitral regurgitation; Narrow pelvis bone; Pectus carinatum; Platyspondyly; Posterior rib cupping; Prominent styloid process of ulna; Proptosis; Radial deviation of the hand; Short clavicles; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Spondyloepimetaphyseal dysplasia; X-linked inheritance; X-linked recessive inheritance
EIF4A317q25.399.99%gene with protein product608546DDX48Abnormality of the aryepiglottic fold; Abnormality of the voice; Agenesis of mandibular central incisor; Aplasia of the epiglottis; Autosomal recessive inheritance; Bifid uvula; Cleft lower alveolar ridge; Cleft mandible; Clinodactyly of the 5th finger; Feeding difficulties; Global developmental delay; High palate; Hypoplasia of the radius; Low-set ears; Microretrognathia; Narrow mouth; Pierre-Robin sequence; Prominent nose; Protruding ear; Proximal placement of thumb; Radial deviation of the hand; Short metacarpal; Short phalanx of finger; Short stature; Short thumb; Talipes equinovarus; Tibial deviation of toes
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL 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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome