XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Decreased fertility in females

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AGPAT29q34.3100%gene with protein product603100BSCLAbnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Clitoral hypertrophy; Cystic angiomatosis of bone; Decreased fertility in females; Decreased serum leptin; Diabetes mellitus; Elevated hepatic transaminases; Generalized hirsutism; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; Hirsutism; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Macrotia; Mandibular prognathia; Nephrolithiasis; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent supraorbital ridges; Prominent umbilicus; Reduced intrathoracic adipose tissue; Skeletal muscle hypertrophy; Splenomegaly; Tall stature; Triangular face; Umbilical hernia
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CYB5A18q22.3100%gene with protein product613218CYB5Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Absence of secondary sex characteristics; Autosomal recessive inheritance; Cryptorchidism; Cyanosis; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Infantile onset; Male pseudohermaphroditism; Methemoglobinemia; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP11B18q24.3100%gene with protein product610613CYP11BAbnormal circulating aldosterone; Abnormal circulating renin; Abnormal EKG; Abnormality of hair growth rate; Abnormality of prenatal development or birth; Abnormality of the menstrual cycle; Abnormality of the urinary system; Accelerated bone age after puberty; Accelerated skeletal maturation; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia, female; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Clitoral hypertrophy; Congenital adrenal hyperplasia; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Delayed skeletal maturation; Dexamethasone-suppresible primary hyperaldosteronism; Ectopic adrenal gland; Enlarged polycystic ovaries; Female sexual dysfunction; Fused labia minora; Generalized hyperpigmentation; Hirsutism; Hyperaldosteronism; Hyperpigmentation of the skin; Hyperpigmented genitalia; Hypertension; Hypervolemia; Hypokalemia; Hypoplasia of the uterus; Hypoplasia of the vagina; Increased circulating ACTH level; Increased circulating androgen level; Long penis; Neonatal onset; Onset; Osteoporosis; Precocious puberty in males; Premature adrenarche; Renal salt wasting; Short stature; Tall stature; Urogenital sinus anomalyDisorders of Sex Development
CYP17A110q24.3299.32%gene with protein product609300CYP17Abnormal circulating aldosterone; Abnormal EKG; Abnormality of creatine metabolism; Absence of secondary sex characteristics; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Aortic root aneurysm; Autosomal recessive inheritance; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Generalized hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hypergonadotropic hypogonadism; Hypertension; Hypervolemia; Hypokalemia; Hypokalemic alkalosis; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Increased circulating ACTH level; Male pseudohermaphroditism; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP17A110q24.3299.32%gene with protein product609300CYP17Abnormal circulating aldosterone; Abnormal EKG; Abnormality of creatine metabolism; Absence of secondary sex characteristics; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Aortic root aneurysm; Autosomal recessive inheritance; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Generalized hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hypergonadotropic hypogonadism; Hypertension; Hypervolemia; Hypokalemia; Hypokalemic alkalosis; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Increased circulating ACTH level; Male pseudohermaphroditism; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
DMRT39p24.3100%gene with protein product614754DMRTA3Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testis
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
GATA48p23.1100%gene with protein product600576Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Azoospermia; Biparietal narrowing; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged thorax; Epicanthus; External ear malformation; Female external genitalia in individual with 46,XY karyotype; Global developmental delay; Gonadal dysgenesis; Gynecomastia; High forehead; High palate; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Male infertility; Microcephaly; Micrognathia; Micropenis; Microphallus; Osteoporosis; Perineal hypospadias; Poor speech; Preauricular pit; Primary amenorrhea; Primum atrial septal defect; Proptosis; Pulmonary artery stenosis; Seizures; Short neck; Short nose; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tapered finger; Testicular dysgenesis; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testis; Ventricular septal defect; Weight loss; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development; Heterotaxy
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
MAP3K15q11.2100%gene with protein product600982MEKK1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Chordee; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Male pseudohermaphroditism; Micropenis; Osteoporosis; Polycystic ovaries; Primary amenorrhea; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
MEN111q13100%gene with protein product613733Abnormality of hair density; Abnormality of the pancreatic islet cells; Abnormality of the thyroid gland; Adenoma sebaceum; Adrenocortical adenoma; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Angiofibromas; Autosomal dominant inheritance; Cafe-au-lait spot; Carcinoid tumor; Chondrocalcinosis; Confetti-like hypopigmented macules; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Diarrhea; Dyspareunia; Easy fatigability; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Fatigue; Female hypogonadism; Fluctuations in consciousness; Galactorrhea; Generalized muscle weakness; Generalized osteoporosis; Glucagonoma; Growth hormone excess; Gynecomastia; Headache; Hypercalcemia; Hypercalciuria; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Hyperphosphaturia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypophosphatemia; Hypotension; Impotence; Increased body weight; Increased circulating cortisol level; Infantile hypercalcemia; Insulinoma; Male hypogonadism; Nephrocalcinosis; Nonketotic hypoglycemia; Osteopenia; Osteoporosis; Pallor; Palpitations; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Polyphagia; Primary hyperparathyroidism; Progressive visual loss; Prolactinoma; Reactive hypoglycemia; Recurrent hypoglycemia; Secondary growth hormone deficiency; Seizures; Subcutaneous lipoma; Thyroid adenoma; Transient global amnesia; Tremor; Vomiting; Zollinger-Ellison syndromeEctodermal Dysplasia
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
NR5A19q33.3100%gene with protein product184757FTZF1Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Ambiguous genitalia; Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Azoospermia; Bifid scrotum; Clitoral hypertrophy; Cryptorchidism; Cryptozoospermia; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Non-obstructive azoospermia; Obstructive azoospermia; Osteopenia; Osteoporosis; Osteoporosis of vertebrae; Penoscrotal hypospadias; Polycystic ovaries; Premature ovarian insufficiency; Primary amenorrhea; Scrotal hypoplasia; Secondary amenorrhea; Sex reversal; Sex-limited autosomal dominant; Sparse axillary hair; Sparse pubic hair; Streak ovary; Streaky metaphyseal sclerosis; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development; Male Infertility
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
SOX917q24.3100%gene with protein product608160CMD1, CMPD111 pairs of ribs; Abnormal heart morphology; Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the pharynx; Abnormality of the scrotum; Abnormality of the uterus; Absent sternal ossification; Ambiguous genitalia; Anterior tibial bowing; Apnea; Autosomal dominant inheritance; Azoospermia; Bifid scrotum; Blepharophimosis; Cleft palate; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-limb short stature; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Femoral bowing; Fibular hypoplasia; Flat face; Generalized hypotonia; Glossoptosis; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hearing impairment; High forehead; Hip dislocation; Hydrocephalus; Hydronephrosis; Hypergonadotropic hypogonadism; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypoplastic cervical vertebrae; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Hypospadias; Kyphoscoliosis; Laryngomalacia; Low-set ears; Macrocephaly; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micrognathia; Micropenis; Narrow chest; Neonatal respiratory distress; Neonatal short-limb short stature; Osteoporosis; Polycystic ovaries; Polyhydramnios; Poorly ossified cervical vertebrae; Primary amenorrhea; Proptosis; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Scrotal hypoplasia; Sex reversal; Short neck; Short palpebral fissure; Short stature; Shortening of all phalanges of fingers; Shortening of all phalanges of the toes; Skin dimples; Small abnormally formed scapulae; Small face; Sparse axillary hair; Sparse pubic hair; Streak ovary; Talipes equinovarus; Testicular dysgenesis; Thin ribs; Thoracic hypoplasia; Tibial bowing; Tracheobronchomalacia; True hermaphroditism; Upper airway obstruction; Urogenital sinus anomaly; Vanishing testis; Wide anterior fontanelDisorders of Sex Development; Short-Rib Thoracic Dysplasia
SRYYp11.241%gene with protein product480000Abnormal scrotal rugation; Abnormal sex determination; Abnormality of female external genitalia; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the uterus; Absence of secondary sex characteristics; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Azoospermia; Bifid scrotum; Bilateral cryptorchidism; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypospadias; Increased circulating gonadotropin level; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscle hypertrophy of the lower extremities; Osteoporosis; Penoscrotal hypospadias; Polycystic ovaries; Primary amenorrhea; Scrotal hypoplasia; Sex reversal; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tall stature; Testicular dysgenesis; True hermaphroditism; Unilateral cryptorchidism; Urogenital sinus anomaly; Vanishing testis; Y-linked inheritanceDisorders of Sex Development
VAMP7Xq28 and Yq1100%gene with protein product300053SYBL1Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Male infertility; Micropenis; Osteoporosis; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Streak ovary; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome
WWOX16q23.1-q23.100%gene with protein product605131Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the voice; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Cerebellar atrophy; Chest pain; Clinodactyly of the 5th toe; Clitoral hypertrophy; Cough; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysarthria; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Epileptic encephalopathy; Esophageal carcinoma; Feeding difficulties in infancy; Female external genitalia in individual with 46,XY karyotype; Gait ataxia; Gaze-evoked nystagmus; Global developmental delay; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperreflexia; Hypokinesia; Hypoplasia of the vagina; Hyporeflexia; Hypospadias; Intellectual disability; Limb ataxia; Male infertility; Microcephaly; Micropenis; Muscular hypotonia of the trunk; Nausea and vomiting; Osteoporosis; Primary amenorrhea; Progressive microcephaly; Rigidity; Seizures; Sparse axillary hair; Sparse pubic hair; Spasticity; Streak ovary; Urogenital sinus anomaly; Vanishing testis; Variable expressivityDisorders of Sex Development
ZFPM28q23100%gene with protein product603693Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Autosomal dominant inheritance; Azoospermia; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Congenital diaphragmatic hernia; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Female external genitalia in individual with 46,XY karyotype; Fused labia minora; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intrauterine growth retardation; Male infertility; Micropenis; Osteoporosis; Preauricular pit; Primary amenorrhea; Proptosis; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testisDisorders of Sex Development


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