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
Abnormality of the vertebral column

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ANKH5p15.2100%gene with protein product605145CCAL2, CMDJAbnormality of pelvic girdle bone morphology; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the vertebral column; Adult onset; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Bony paranasal bossing; Calcification of cartilage; Calvarial osteosclerosis; Club-shaped distal femur; Craniofacial hyperostosis; Depressed nasal bridge; Erlenmeyer flask deformity of the femurs; Facial palsy; Hypertelorism; Joint swelling; Macrocephaly; Mandibular prognathia; Metaphyseal widening; Misalignment of teeth; Mixed hearing impairment; Nasal obstruction; Osteoarthritis; Osteopetrosis; Polyarticular chondrocalcinosis; Sclerosis of skull base; Skeletal dysplasia; Telecanthus; Wide nasal bridge
ARSEXp22.33100%gene with protein product300180CDPX, CDPX1Abnormality of the vertebral column; Anosmia; Cataract; Depressed nasal bridge; Epiphyseal stippling; Global developmental delay; Hearing impairment; Hypogonadism; Ichthyosis; Microcephaly; Short distal phalanx of finger; Short nasal septum; Short nose; Short stature; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
LRP511q13.2100%gene with protein product603506LRP7, OPPG, EVR1Abdominal distention; Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the ribs; Abnormality of the vertebral column; Absent anterior chamber of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Blindness; Brachycephaly; Broad forehead; Broad jaw; Cataract; Clavicular sclerosis; Conductive hearing impairment; Cranial hyperostosis; Craniofacial hyperostosis; Craniosynostosis; Dental malocclusion; Diaphyseal thickening; Exudative vitreoretinopathy; Facial palsy; Falciform retinal fold; Flat forehead; Generalized hypotonia; Generalized osteosclerosis; Glioma; Growth abnormality; Headache; Hepatomegaly; Heterogeneous; High forehead; Horizontal pendular nystagmus; Hypertelorism; Increased bone mineral density; Increased susceptibility to fractures; Infantile onset; Intellectual disability, mild; Iris atrophy; Joint hypermobility; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Metacarpal diaphyseal endosteal sclerosis; Metaphyseal widening; Metatarsal diaphyseal endosteal sclerosis; Microcephaly; Microphthalmia; Multiple renal cysts; Osteopenia; Osteopetrosis; Osteoporosis; Pathologic fracture; Peripheral retinal avascularization; Phthisis bulbi; Platyspondyly; Polycystic liver disease; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Sensorineural hearing impairment; Short stature; Slow progression; Small for gestational age; Subcapsular cataract; Thickened calvaria; Thickened cortex of long bones; Torus palatinus; Tractional retinal detachment; Ventricular septal defect; Vertebral body sclerosis; Vitreoretinopathy; Vitreous hemorrhage
NF222q12.2100%gene with protein product607379Abnormality of the skin; Abnormality of the vertebral column; Adult onset; Ataxia; Autosomal dominant inheritance; Cataract; Epiretinal membrane; Incomplete penetrance; Meningioma; Migraine; Peripheral neuropathy; Schwannoma; Sensorineural hearing impairment; Somatic mutation; Spinal cord tumor; Tinnitus; Variable expressivity; VertigoAplastic Anemia ; Bone Marrow Failure Syndromes ; Nephrotic Syndrome
NT5E6q14.3100%gene with protein product129190NT5Abnormal joint morphology; Abnormality of the vertebral column; Arterial calcification; Arterial occlusion; Autosomal recessive inheritance; Decreased serum creatinine; Ectopic ossification
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate. This gene is available on our menu: https://www.genedx.com/test-catalog/available-tests/rmrp-gene-sequencing-1/157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment


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