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
Hyponatremia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AVPR2Xq28100%gene with protein product300538DIR3, DIRAnorexia; Constipation; Decreased circulating renin level; Diabetes insipidus; Elevated systolic blood pressure; Failure to thrive; Feeding difficulties in infancy; Fever; Heterogeneous; Hypernatremia; Hypernatremic dehydration; Hypernatriuria; Hypertonic dehydration; Hyponatremia; Hyposthenuria; Intellectual disability; Irritability; Megacystis; Nausea and vomiting; Neonatal onset; Nephrogenic diabetes insipidus; Polydipsia; Polyuria; Seizures; Short stature; Unexplained fevers; Vomiting; X-linked recessive inheritance
BSND1p32.3100%gene with protein product606412DFNB73Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Global glomerulosclerosis; Heterogeneous; Hydrops fetalis; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Reduced renal corticomedullary differentiation; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment; Tubulointerstitial fibrosis
CA1215q22.2100%gene with protein product603263Autosomal dominant inheritance; Autosomal recessive inheritance; Dehydration; Failure to thrive; Feeding difficulties; Hyperkalemia; Hyponatremia; Infantile onsetPalmoplantar keratoderma plus congenital ichthyosis
CLCNKA1p36.1399.96%gene with protein product602024Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Heterogeneous; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment
CLCNKB1p36.1399.98%gene with protein product602023Abnormal choroid morphology; Abnormal sclera morphology; Abnormality of the retinal vasculature; Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Dehydration; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hypokalemic metabolic alkalosis; Hyponatremia; Hyporeflexia; Hypotension; Impaired reabsorption of chloride; Increased circulating renin level; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal potassium wasting; Renal salt wasting; Sensorineural hearing impairment
CTNS17p13.2100%gene with protein product606272Abnormality of the voice; Abnormality of thyroid physiology; Abnormality of vitamin D metabolism; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Constipation; Corneal crystals; Decreased plasma carnitine; Dehydration; Delayed puberty; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated intracellular cystine; Episodic metabolic acidosis; Exocrine pancreatic insufficiency; Failure to thrive; Failure to thrive in infancy; Frontal bossing; Generalized aminoaciduria; Genu valgum; Glycosuria; Growth abnormality; Growth delay; Hepatomegaly; Hyperchloremic metabolic acidosis; Hyperphosphaturia; Hypohidrosis; Hypokalemia; Hyponatremia; Hypophosphatemia; Hypophosphatemic rickets; Hypopigmentation of hair; Hypopigmentation of the skin; Juvenile onset; Low-molecular-weight proteinuria; Male infertility; Metaphyseal widening; Microscopic hematuria; Myopathy; Nephrolithiasis; Photophobia; Pigmentary retinopathy; Polydipsia; Polyuria; Primary hypothyroidism; Progressive neurologic deterioration; Proteinuria; Rachitic rosary; Recurrent corneal erosions; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Renal tubular dysfunction; Retinal pigment epithelial mottling; Retinopathy; Rickets; Short stature; Skeletal muscle atrophy; Splenomegaly; Stage 5 chronic kidney disease; Tubulointerstitial abnormality; Visual impairment; Vomiting
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
CYP11B28q24.399.9%gene with protein product124080CYP11BAbnormal circulating renin; Adrenal hyperplasia; Autosomal recessive inheritance; Decreased circulating aldosterone level; Dehydration; Dexamethasone-suppresible primary hyperaldosteronism; Episodic fever; Failure to thrive; Feeding difficulties in infancy; Growth delay; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Neonatal onset; Orthostatic hypotension; Renal salt wasting; Vomiting
CYP11B28q24.399.9%gene with protein product124080CYP11BAbnormal circulating renin; Adrenal hyperplasia; Autosomal recessive inheritance; Decreased circulating aldosterone level; Dehydration; Dexamethasone-suppresible primary hyperaldosteronism; Episodic fever; Failure to thrive; Feeding difficulties in infancy; Growth delay; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Neonatal onset; Orthostatic hypotension; Renal salt wasting; Vomiting
HSD3B21p12100%gene with protein product613890Abnormal oral glucose tolerance; Abnormal sex determination; Abnormality of the menstrual cycle; Absence of secondary sex characteristics; Absent scrotum; Accelerated skeletal maturation; Acidosis; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Autosomal recessive inheritance; Bifid scrotum; Clitoral hypertrophy; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized hyperpigmentation; Glucose intolerance; Gynecomastia; Hyperkalemia; Hypernatriuria; Hyperpigmented genitalia; Hyponatremia; Hypospadias; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Insulin resistance; Male pseudohermaphroditism; Micropenis; Neonatal hypoglycemia; Osteoporosis; Perineal hypospadias; Premature adrenarche; Premature pubarche; Renal salt wasting; Urogenital sinus anomaly; VomitingDisorders of Sex Development
MAGED2Xp11.21100%gene with protein product300470Fetal polyuria; Hypercalciuria; Hypochloremia; Hypokalemia; Hyponatremia; Increased circulating renin level; Medullary nephrocalcinosis; Polyhydramnios; Polyuria; Premature birth; X-linked recessive inheritance
NFKB210q24.3299.99%gene with protein product164012Abnormal size of pituitary gland; Abnormality of the periungual region; Adrenocorticotropin deficient adrenal insufficiency; Anal atresia; Asthma; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Central adrenal insufficiency; Chronic otitis media; Decreased antibody level in blood; Decreased circulating ACTH level; Decreased circulating cortisol level; Elevated hepatic transaminases; Fatigue; Hemolytic anemia; Hypoglycemic coma; Hyponatremia; Hypotension; Immunodeficiency; Lymphadenopathy; Lymphopenia; Nail dystrophy; Pneumonia; Purpura; Recurrent bronchitis; Recurrent hypoglycemia; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Severe B lymphocytopenia; Severe viral infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency
NR0B1Xp21.299.98%gene with protein product300473AHC, DSSAbnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Absence of pubertal development; Adrenal hypoplasia; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Dehydration; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Hyponatremia; Hypoplasia of the vagina; Hypospadias; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscular dystrophy; Oligospermia; Osteoporosis; Polycystic ovaries; Precocious puberty; Primary amenorrhea; Renal salt wasting; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testis; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development
NR3C24q3199.95%gene with protein product600983MLRAutosomal dominant inheritance; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Infantile onset; Maternal hypertension; Metabolic acidosis; Phenotypic variability; Pseudohypoaldosteronism; Vomiting
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
PRF110q22.1100%gene with protein product170280Anemia; Aplastic anemia; Ataxia; Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; CSF pleocytosis; Encephalitis; Failure to thrive; Generalized edema; Generalized hypotonia; Global developmental delay; Hemiplegia; Hemophagocytosis; Hepatomegaly; Hypertonia; Hypertriglyceridemia; Hypoalbuminemia; Hypofibrinogenemia; Hyponatremia; Hypoproteinemia; Increased CSF protein; Increased intracranial pressure; Increased serum ferritin; Increased total bilirubin; Irritability; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Meningitis; Prolonged prothrombin time; Seizures; Splenomegaly; Tetraplegia; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SAMD97q21.2100%gene with protein product610456C7orf5Abnormality of the skin; Adrenal insufficiency; Aspiration pneumonia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcinosis; Chronic diarrhea; Conjunctivitis; Cryptorchidism; Decreased body weight; Decreased testicular size; Gastroesophageal reflux; Gingivitis; Global developmental delay; Hypergonadotropic hypogonadism; Hyperkalemia; Hypoglycemia; Hyponatremia; Hypospadias; Intrauterine growth retardation; Microphallus; Motor delay; Overlapping fingers; Patent ductus arteriosus; Petechiae; Radial club hand; Recurrent bacterial infections; Recurrent urinary tract infections; Rocker bottom foot; Scoliosis; Sepsis; Short stature; Talipes equinovarusAplastic Anemia ; Bone Marrow Failure Syndromes
SARS219q13.2100%gene with protein product612804SARSMAnemia; Autosomal recessive inheritance; Chronic kidney disease; Diabetes mellitus; Failure to thrive; Feeding difficulties; Generalized hypotonia; Hyperechogenic kidneys; Hyperuricemia; Hypochloremic metabolic alkalosis; Hypomagnesemia; Hyponatremia; Infantile onset; Leukopenia; Polyuria; Premature birth; Proteinuria; Pulmonary arterial hypertension; Renal salt wasting; Respiratory failure; Thrombocytopenia; Type 2 muscle fiber atrophy
SCNN1A12p13100%gene with protein product600228SCNN1Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal salt wasting; Vomiting
SCNN1B16p12.2-p12.100%gene with protein product600760Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SCNN1G16p12.2100%gene with protein product600761Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SLC26A37q22.3-q31.1100%gene with protein product126650DRA, CLDAbdominal distention; Abnormality of the cardiovascular system; Autosomal recessive inheritance; Dehydration; Diarrhea; Failure to thrive; Growth delay; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypochloremia; Hypokalemia; Hyponatremia; Metabolic alkalosis; Polyhydramnios; Premature birthInflammatory Bowel Disease
TBX191q24.2100%gene with protein product604614Adrenal hypoplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Autosomal recessive inheritance; Decreased circulating cortisol level; Fasting hypoglycemia; Fatigue; Hypoglycemic seizures; Hyponatremia; Hypotension; Neonatal hypoglycemia; Prolonged neonatal jaundice


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