XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Spina bifida

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
LMX1B9q33.399.76%gene with protein product602575NPS1Abnormality of the fingernails; Absence of pectoralis minor muscle; Absent distal interphalangeal creases; Anonychia; Antecubital pterygium; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Biceps aplasia; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Concave nail; Cubitus valgus; Disproportionate prominence of the femoral medial condyle; Elongated radius; Exostoses; Glaucoma; Glenoid fossa hypoplasia; Glomerulonephritis; Hematuria; Hypoplasia of first ribs; Hypoplastic radial head; Hypoplastic toenails; Iliac horns; Joint hyperflexibility; Joint stiffness; Joint swelling; Keratoconus; Limited elbow extension; Lumbar hyperlordosis; Microcornea; Microphakia; Nephrotic syndrome; Osteoarthritis; Patellar aplasia; Patellar dislocation; Pectus excavatum; Pes planus; Proteinuria; Ptosis; Quadriceps aplasia; Renal insufficiency; Ridged nail; Scoliosis; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Spina bifida; Talipes equinovarus; Thickening of the lateral border of the scapula; Triceps aplasiaNephrotic Syndrome
NF117q11.2100%gene with protein product613113Abdominal wall muscle weakness; Abnormality of the cardiovascular system; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the thorax; Astrocytoma; Autosomal dominant inheritance; Axillary freckling; Cafe-au-lait spot; Cryptorchidism; Cubitus valgus; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Freckling; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypertrophic cardiomyopathy; Hypoplasia of dental enamel; Inguinal freckling; Intellectual disability; Intellectual disability, mild; Juvenile myelomonocytic leukemia; Lisch nodules; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower limb muscle weakness; Macrocephaly; Malar flattening; Microcephaly; Midface retrusion; Multiple cafe-au-lait spots; Muscle weakness; Neurofibromas; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Paraparesis; Parathyroid adenoma; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Prolonged bleeding time; Prominent nasolabial fold; Ptosis; Pulmonic stenosis; Relative macrocephaly; Rhabdomyosarcoma; Scoliosis; Secundum atrial septal defect; Short neck; Short stature; Somatic mutation; Specific learning disability; Spina bifida; Spinal cord tumor; Superior pectus carinatum; Symmetric spinal nerve root neurofibromas; Webbed neckCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
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
RBM8A1q21.199.32%gene with protein product605313RBM8Abnormality of coagulation; Absent radius; Adducted thumb; Anemia; Anteverted nares; Aplasia/hypoplasia of the humerus; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal recessive inheritance; Bilateral radial aplasia; Brachycephaly; Broad forehead; Broad thumb; Carpal synostosis; Clinodactyly of the 5th finger; Cow milk allergy; Coxa valga; Decreased antibody level in blood; Eosinophilia; Genu varum; High forehead; Hip dislocation; Horseshoe kidney; Intellectual disability; Low-set, posteriorly rotated ears; Meckel diverticulum; Micrognathia; Motor delay; Pancreatic cysts; Patellar aplasia; Patellar dislocation; Seborrheic dermatitis; Seizures; Shoulder muscle hypoplasia; Spina bifida; Thrombocytopenia; Tibial torsion; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
SLC25A1917q25.1100%gene with protein product606521MCPHAAgenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Contractures of the joints of the lower limbs; Death in infancy; Difficulty walking; Feeding difficulties; Flexion contracture; Hepatomegaly; Hyporeflexia; Increased CSF lactate; Irritability; Lactic acidosis; Lethargy; Limb hypertonia; Lissencephaly; Metabolic acidosis; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Organic aciduria; Osteoporosis; Paralysis; Partial agenesis of the corpus callosum; Peripheral axonal neuropathy; Polyneuropathy; Progressive microcephaly; Severe global developmental delay; Skeletal muscle atrophy; Sloping forehead; Spina bifida; Talipes equinovarus; Temperature instability; Ventriculomegaly
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
TRIM365q22.3100%gene with protein product609317Anencephaly; Spina bifida


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