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
Focal dystonia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
PRKCG19q13.42100%gene with protein product176980PKCG, SCA14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cerebellar atrophy; Depressivity; Dysarthria; Dysmetria; Dysphagia; Facial myokymia; Focal dystonia; Gait ataxia; Hyperreflexia; Impaired vibration sensation at ankles; Incomplete penetrance; Memory impairment; Mental deterioration; Nystagmus; Progressive cerebellar ataxia; Slow progression
TH11p15.5100%gene with protein product191290Autosomal recessive inheritance; Babinski sign; Bradykinesia; Brisk reflexes; Central hypotonia; Constipation; Decreased CSF homovanillic acid; Delayed speech and language development; Excessive salivation; Feeding difficulties; Focal dystonia; Gait ataxia; Hypokinesia; Infantile onset; Irritability; Lethargy; Limb dystonia; Lower limb hyperreflexia; Mask-like facies; Motor delay; Muscular hypotonia of the trunk; Myoclonus; Night sweats; Oculogyric crisis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Postural tremor; Ptosis; Rigidity; Talipes equinovarus; Tremor; Variable expressivityBone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Obesity


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