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
Abnormality of cholesterol metabolism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
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
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia


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