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
Partial albinism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
LAMTOR21q22100%gene with protein product610389ROBLD3Autosomal recessive inheritance; Coarse facial features; Hypopigmentation of hair; Hypopigmentation of the skin; IgM deficiency; Immunodeficiency; Neutropenia; Partial albinism; Recurrent bronchopulmonary infections; Short statureAplastic Anemia ; Bone Marrow Failure Syndromes
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
MYO5A15q21.299.98%gene with protein product160777MYH12Abnormality of movement; Accumulation of melanosomes in melanocytes; Ataxia; Autosomal recessive inheritance; Diplopia; Generalized hypotonia; Global developmental delay; Hyperlipidemia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Infantile onset; Intellectual disability; Iris hypopigmentation; Melanin pigment aggregation in hair shafts; Muscular hypotonia; Myopia; Nystagmus; Partial albinism; Premature graying of hair; Retinopathy; Seizures; Silver-gray hair; Specific learning disability; Tremor; White hairAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
RAB27A15q21.399.98%gene with protein product603868Abnormality of the cerebellum; Accumulation of melanosomes in melanocytes; Autosomal recessive inheritance; Death in childhood; Hemophagocytosis; Hepatomegaly; Hyperlipidemia; Hypopigmentation of hair; Hypopigmentation of the skin; Immunodeficiency; Infantile onset; Jaundice; Lymphadenopathy; Melanin pigment aggregation in hair shafts; Neutropenia; Pancytopenia; Partial albinism; Premature graying of hair; Recurrent bacterial infections; Reduced delayed hypersensitivity; Seizures; Silver-gray hair; Spasticity; SplenomegalyAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
SNAI28q11.21100%gene with protein product602150SLUGAbnormality of the ear; Absent pigmentation of the ventral chest; Aganglionic megacolon; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital sensorineural hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmented skin patches; Macule; Neoplasm; Partial albinism; Piebaldism; Premature graying of hair; Sensorineural hearing impairment; Telecanthus; White eyebrow; White eyelashes; White forelockWaardenburg Syndrome
TYRP19p23100%gene with protein product115501TYRP, CAS2Albinism; Autosomal recessive inheritance; Freckling; Iris hypopigmentation; Nystagmus; Partial albinism; Red hair; StrabismusAlbinism


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