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
Spinocerebellar atrophy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATXN16p22.3100%gene with protein productXomeDxSlice is not appropriate.601556SCA1Abnormality of extrapyramidal motor function; Adult onset; Areflexia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Chorea; Cognitive impairment; Dilated fourth ventricle; Distal amyotrophy; Dorsal column degeneration; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation with paternal anticipation bias; Hyperreflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Olivopontocerebellar atrophy; Optic atrophy; Optic disc pallor; Progressive cerebellar ataxia; Scanning speech; Slow saccadic eye movements; Spasticity; Spinocerebellar atrophy; Spinocerebellar tract degeneration; Supranuclear ophthalmoplegia; Truncal ataxia; Urinary bladder sphincter dysfunction
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity


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