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
Xanthelasma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
APOB2p24.199.99%gene with protein product107730Abnormal internal carotid artery morphology; Acanthocytosis; Angina pectoris; Aortic atherosclerosis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Corneal arcus; Coronary artery atherosclerosis; Decreased circulating low-density lipoprotein levels; Dyspnea; Heart murmur; Hepatic steatosis; Hypercholesterolemia; Hyperlipidemia; Hypertension; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Reduced tendon reflexes; Renal artery stenosis; Retinal degeneration; Sudden cardiac death; Xanthelasma
APOE19q13.32100%gene with protein productSusceptibility alleles will not be reported.107741AD2Abnormality of the eye; Absent axillary hair; Alzheimer disease; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Cerebral amyloid angiopathy; Cirrhosis; Corneal arcus; Decreased circulating high-density lipoprotein levels; Dementia; Diabetes mellitus; Edema; Glomerulopathy; Hepatic steatosis; Hepatomegaly; Hypercholesterolemia; Hypertriglyceridemia; Increased circulating low-density lipoprotein levels; Late onset; Long-tract signs; Mediastinal lymphadenopathy; Mesangial hypercellularity; Middle age onset; Neurofibrillary tangles; Obesity; Parkinsonism; Petechiae; Proteinuria; Pulmonary infiltrates; Renal insufficiency; Sea-blue histiocytosis; Sleep-wake cycle disturbance; Splenomegaly; Subcutaneous nodule; Tendon xanthomatosis; Thrombocytopenia; Type IV atherosclerotic lesion; Xanthelasma
CYP27A12q35100%gene with protein product606530CYP27Abnormal pyramidal signs; Abnormality of central somatosensory evoked potentials; Abnormality of cholesterol metabolism; Abnormality of extrapyramidal motor function; Abnormality of the dentate nucleus; Abnormality of the periventricular white matter; Abnormality of vision; Angina pectoris; Ataxia; Atherosclerosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholelithiasis; Delusions; Dementia; Depressivity; Developmental regression; Diarrhea; Dystonia; EEG with generalized slow activity; EMG: axonal abnormality; Hallucinations; Hypercholesterolemia; Hyperreflexia; Intellectual disability; Muscle weakness; Myocardial infarction; Myoclonus; Neurological speech impairment; Optic disc pallor; Osteoporosis; Peripheral neuropathy; Pseudobulbar paralysis; Respiratory insufficiency; Seizures; Spasticity; Tendon xanthomatosis; Tremor; Xanthelasma
CYP27A12q35100%gene with protein product606530CYP27Abnormal pyramidal signs; Abnormality of central somatosensory evoked potentials; Abnormality of cholesterol metabolism; Abnormality of extrapyramidal motor function; Abnormality of the dentate nucleus; Abnormality of the periventricular white matter; Abnormality of vision; Angina pectoris; Ataxia; Atherosclerosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholelithiasis; Delusions; Dementia; Depressivity; Developmental regression; Diarrhea; Dystonia; EEG with generalized slow activity; EMG: axonal abnormality; Hallucinations; Hypercholesterolemia; Hyperreflexia; Intellectual disability; Muscle weakness; Myocardial infarction; Myoclonus; Neurological speech impairment; Optic disc pallor; Osteoporosis; Peripheral neuropathy; Pseudobulbar paralysis; Respiratory insufficiency; Seizures; Spasticity; Tendon xanthomatosis; Tremor; Xanthelasma
G6PC17q21.31100%gene with protein product613742G6PTAbnormal bleeding; Autosomal recessive inheritance; Decreased glomerular filtration rate; Decreased muscle mass; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Intermittent diarrhea; Lactic acidosis; Lipemia retinalis; Nephrolithiasis; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Short stature; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
LDLR19p13.2100%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 606945Abnormal internal carotid artery morphology; Angina pectoris; Aortic atherosclerosis; Autosomal dominant inheritance; Cerebral artery atherosclerosis; Corneal arcus; Dyspnea; Heart murmur; Hepatic steatosis; Hypercholesterolemia; Hyperlipidemia; Hypertension; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Renal artery stenosis; Sudden cardiac death; Xanthelasma
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
TTPA8q12.3100%gene with protein product600415AVEDAbnormal pyramidal signs; Areflexia; Ataxia; Autosomal recessive inheritance; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait disturbance; Hypercholesterolemia; Hypertriglyceridemia; Increased circulating low-density lipoprotein levels; Muscle weakness; Nyctalopia; Nystagmus; Pes cavus; Scoliosis; Sensory neuropathy; Tendon xanthomatosis; Vitamin E deficiency; Xanthelasma


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