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
Speech apraxia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
GALT9p13.3100%gene with protein product606999Abnormal bleeding; Abnormality of the ovary; Aminoaciduria; Autosomal recessive inheritance; Cataract; Cirrhosis; Decreased fertility in females; Decreased liver function; Diarrhea; Failure to thrive; Feeding difficulties; Galactosuria; Hemolytic anemia; Hepatic failure; Hepatomegaly; Hyperchloremic metabolic acidosis; Hypergalactosemia; Hypergonadotropic hypogonadism; Hypoglycemia; Impairment of galactose metabolism; Increased level of galactitol in plasma; Increased level of galactitol in red blood cells; Increased level of galactitol in urine; Increased level of galactonate in red blood cells; Intellectual disability; Jaundice; Metabolic acidosis; Nausea and vomiting; Osteoporosis; Premature ovarian insufficiency; Speech apraxia; Speech articulation difficulties; Vomiting; Weight lossAutoimmune Disorders
GRIN2A16p13.2100%gene with protein product138253NMDAR2AAgnosia; Aphasia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Delayed speech and language development; Dysphasia; EEG with centrotemporal focal spike waves; Incomplete penetrance; Seizures; Speech apraxia; Variable expressivity
PACS111q13.1-q13.99.99%gene with protein product607492Aggressive behavior; Autosomal dominant inheritance; Bulbous nose; Cavum septum pellucidum; Constipation; Cryptorchidism; Delayed speech and language development; Diastema; Downslanted palpebral fissures; Downturned corners of mouth; Feeding difficulties; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Intellectual disability; Long eyelashes; Low anterior hairline; Low-set ears; Macrotia; Myopia; Nystagmus; Pes planus; Ptosis; Seizures; Single umbilical artery; Smooth philtrum; Speech apraxia; Strabismus; Synophrys; Thin upper lip vermilion; Volvulus; Wide intermamillary distance; Wide mouth
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
SRPX2Xq22.199.99%gene with protein product300642Autosomal dominant inheritance; Focal seizures; Frontoparietal polymicrogyria; Intellectual disability, mild; Speech apraxia


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