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
Mesoaxial hand polydactyly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
HOXD132q31.1100%gene with protein product142989HOX4I, SPD2-3 toe syndactyly; 2nd-5th toe middle phalangeal hypoplasia; 3-4 finger syndactyly; 3-4 toe syndactyly; 4-5 toe syndactyly; 6 metacarpals; Abnormal cardiac septum morphology; Abnormal vertebral morphology; Abnormality of the nasopharynx; Abnormality of the ribs; Abnormality of the sternum; Absent distal interphalangeal creases; Absent radius; Anal atresia; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Brachydactyly; Broad distal phalanx of the hallux; Broad distal phalanx of the thumb; Broad hallux; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Choanal atresia; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Contracture of the proximal interphalangeal joint of the 5th finger; Cutaneous finger syndactyly; Ectopic kidney; Enlarged proximal interphalangeal joints; Esophageal atresia; Failure to thrive; Finger syndactyly; Fused fourth and fifth metacarpals; Hallux valgus; Hydronephrosis; Hypoplasia of the radius; Hypospadias; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Large fontanelles; Laryngeal stenosis; Laryngomalacia; Mesoaxial hand polydactyly; Metacarpal synostosis; Metatarsal synostosis; Moderately short stature; Multiple impacted teeth; Occipital encephalocele; Oligodactyly; Patent ductus arteriosus; Patent urachus; Polyhydramnios; Postaxial foot polydactyly; Postnatal growth retardation; Preaxial polydactyly; Premature birth; Radioulnar synostosis; Renal agenesis; Renal dysplasia; Round face; Scoliosis; Short 5th metacarpal; Short clavicles; Short distal phalanx of finger; Short fifth metatarsal; Short metacarpal; Short metatarsal; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short stature; Short thumb; Single umbilical artery; Spina bifida; Sporadic; Straight clavicles; Symphalangism affecting the phalanges of the hand; Syndactyly; Tethered cord; Tetralogy of Fallot; Toe syndactyly; Tracheal stenosis; Tracheoesophageal fistula; Transposition of the great arteries; Triphalangeal thumb; Type D brachydactyly; Type E brachydactyly; Ulnar deviation of finger; Ureteropelvic junction obstruction; Ventricular septal defect; Vertebral segmentation defect; Vesicoureteral reflux; Y-shaped metacarpalsHeterotaxy ; VACTERL Association
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
TFAP2B6p12.399.99%gene with protein product601601Autosomal dominant inheritance; Broad forehead; Broad nasal tip; Clinodactyly of the 5th finger; Depressed nasal bridge; Depressed nasal ridge; Distal/middle symphalangism of 5th finger; Downslanted palpebral fissures; Everted lower lip vermilion; Global developmental delay; Highly arched eyebrow; Hypertelorism; Intellectual disability, mild; Low-set ears; Malar flattening; Mesoaxial hand polydactyly; Parasomnia; Patent ductus arteriosus; Protruding ear; Ptosis; Short middle phalanx of the 5th finger; Short philtrum; Strabismus; Thick eyebrow; Thick vermilion border; Triangular mouth


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