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
Abnormal posturing

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCD414q24.3100%gene with protein product603214PXMP1LAbnormal posturing; Anemia; Autosomal recessive inheritance; Congenital onset; Decreased adenosylcobalamin; Feeding difficulties; Generalized hypotonia; Growth delay; Homocystinuria; Hyperhomocystinemia; Inguinal hernia; Lethargy; Methylmalonic acidemia; Methylmalonic aciduria; Neutropenia; Tachypnea; ThrombocytopeniaPalmoplantar keratoderma plus congenital ichthyosis
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
TIMM8AXq22.1100%gene with protein product300356DFN1Abnormal electroretinogram; Abnormal posturing; Blindness; Cerebral calcification; Childhood onset; Constriction of peripheral visual field; Cortical visual impairment; Dementia; Dysarthria; Dysphagia; Dystonia; Generalized amyotrophy; Hyperreflexia; Increased susceptibility to fractures; Infantile sensorineural hearing impairment; Mental deterioration; Myopia; Optic atrophy; Photophobia; Postlingual sensorineural hearing impairment; Progressive sensorineural hearing impairment; Reduced visual acuity; Spasticity; Tremor; Visual impairment; X-linked inheritance; X-linked recessive inheritance
TOR1A9q34.11100%gene with protein product605204DYT1Abnormal posturing; Abnormality of the voice; Anxiety; Autosomal dominant inheritance; Blepharospasm; Depressivity; Dysarthria; Gait disturbance; Generalized hypotonia; Hyperlordosis; Hypertonia; Kyphosis; Limb myoclonus; Obsessive-compulsive behavior; Panic attack; Personality disorder; Scoliosis; Spinal myoclonus; Torsion dystonia; Torticollis; Tremor


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