XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Melanoma

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACD16q22.1100%gene with protein product609377Abnormality of coagulation; Abnormality of the hair; Abnormality of the lymphatic system; Anemia; Aplastic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Cerebellar hypoplasia; Cerebral cortical atrophy; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Failure to thrive; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hypertonia; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Melanoma; Microcephaly; Nail dystrophy; Nevus; Oral leukoplakia; Premature graying of hair; Short stature; Sparse scalp hair; Thrombocytopenia; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
BAP13p21.1100%gene with protein product603089Abnormality of the hair; Abnormality of the lymphatic system; Autosomal dominant inheritance; Choroidal melanoma; Ciliary body melanoma; Cutaneous melanoma; Dry skin; Freckling; Intraocular melanoma; Iris melanoma; Lung adenocarcinoma; Melanoma; Meningioma; Nevus; Retinal detachment; Visual loss
CDK412q14.1100%gene with protein product123829Abnormality of the hair; Abnormality of the lymphatic system; Dry skin; Freckling; Melanoma; Nevus; Subcutaneous nodule
CDKN2A9p21.3100%gene with protein product600160CDKN2, MLMAbdominal pain; Abnormality of the hair; Abnormality of the lymphatic system; Anorexia; Astrocytoma; Autosomal dominant inheritance; Back pain; Chronic fatigue; Cutaneous melanoma; Dry skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Freckling; Functional intestinal obstruction; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Melanoma; Nevus; Oropharyngeal squamous cell carcinoma; Pancreatic adenocarcinoma; Pancreatic squamous cell carcinoma; Poor appetite; Sarcoma; Squamous cell carcinoma; Weight loss
CDKN2A9p21.3100%gene with protein product600160CDKN2, MLMAbdominal pain; Abnormality of the hair; Abnormality of the lymphatic system; Anorexia; Astrocytoma; Autosomal dominant inheritance; Back pain; Chronic fatigue; Cutaneous melanoma; Dry skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Freckling; Functional intestinal obstruction; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Melanoma; Nevus; Oropharyngeal squamous cell carcinoma; Pancreatic adenocarcinoma; Pancreatic squamous cell carcinoma; Poor appetite; Sarcoma; Squamous cell carcinoma; Weight loss
CDKN2B9p21.3100%gene with protein product600431Abnormality of the hair; Abnormality of the lymphatic system; Adrenocortical adenoma; Angiofibromas; Diarrhea; Dry skin; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Freckling; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Melanoma; Nevus; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CDKN2D19p13.2100%gene with protein product600927Abnormality of the hair; Abnormality of the lymphatic system; Dry skin; Freckling; Melanoma; Nevus
DDB211p11.2100%gene with protein product600811Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
DDB211p11.2100%gene with protein product600811Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
MC1R16q24.3100%gene with protein product155555Abnormality of the hair; Abnormality of the lymphatic system; Abnormality of the optic nerve; Albinism; Congenital giant melanocytic nevus; Dry skin; Freckling; Generalized hirsutism; Iris hypopigmentation; Melanoma; Nevus; Nystagmus; Photophobia; Strabismus; Visual impairmentAlbinism
MGMT10q26.3100%gene with protein product156569Abnormality of the hair; Abnormality of the lymphatic system; Dry skin; Freckling; Melanoma; Nevus
MITF3p13100%gene with protein product156845WS2A, WS2Abnormal anterior chamber morphology; Abnormality of the hair; Abnormality of the lymphatic system; Albinism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Blue irides; Coloboma; Congenital sensorineural hearing impairment; Dry skin; Freckling; Frontal bossing; Generalized hypopigmentation; Generalized hypotonia; Giant melanosomes in melanocytes; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic iris stroma; Macrocephaly; Melanoma; Micrognathia; Multiple lentigines; Nevus; Nystagmus; Ocular albinism; Optic nerve dysplasia; Osteopetrosis; Partial albinism; Photophobia; Posteriorly rotated ears; Preauricular pit; Premature graying of hair; Reduced visual acuity; Sensorineural hearing impairment; Shallow orbits; Strabismus; Synophrys; Underdeveloped nasal alae; Variable expressivity; Vestibular hypofunction; Visual impairment; White eyebrow; White eyelashes; White forelock; Wide nasal bridge; X-linked inheritanceAlbinism ; Waardenburg Syndrome
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
POLH6p21.199.98%gene with protein product603968Autosomal recessive inheritance; Basal cell carcinoma; Conjunctivitis; Cutaneous melanoma; Cutaneous photosensitivity; Dermal atrophy; Dry skin; Ectropion; Entropion; Freckles in sun-exposed areas; Hypopigmentation of the skin; Keratitis; Melanoma; Photophobia; Poikiloderma; Squamous cell carcinoma; Telangiectasia
POT17q31.3399.58%gene with protein product606478Abnormality of the hair; Abnormality of the lymphatic system; Dry skin; Freckling; Melanoma; Nevus
TERF2IP16q23.1100%gene with protein product605061Abnormality of the hair; Abnormality of the lymphatic system; Dry skin; Freckling; Melanoma; NevusBone Marrow Failure Syndromes
TERT5p15.33100%gene with protein product187270Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the lymphatic system; Abnormality of the pharynx; Alopecia; Alveolar cell carcinoma; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Freckling; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Increased antibody level in blood; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Melanoma; Microcephaly; Myelodysplasia; Nail dystrophy; Nail pits; Nevus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pneumonia; Premature graying of hair; Premature loss of teeth; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
XPA9q22.33100%gene with protein product611153Abnormality of the dentition; Arthralgia; Ataxia; Autosomal recessive inheritance; Cataract; Choreoathetosis; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Mental deterioration; Microcephaly; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Spasticity; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
XPC3p25.1100%gene with protein product613208Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Childhood onset; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmentation of the skin; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin


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