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
Aplasia of the vagina

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
WNT41p36.1299.98%gene with protein product603490Abnormality of the adrenal glands; Abnormality of the vagina; Acne; Adrenal gland agenesis; Amenorrhea; Aplasia of the uterus; Aplasia of the vagina; Aplasia/Hypoplasia of the fallopian tube; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral lung agenesis; Cleft lip; Cleft palate; Congenital diaphragmatic hernia; Facial hirsutism; Frontal balding; Growth delay; High anterior hairline; Hirsutism; Hypoplasia of the bladder; Hypoplasia of the uterus; Hypospadias; Increased serum testosterone level; Intrauterine growth retardation; Low-set ears; Malrotation of small bowel; Obesity; Oligohydramnios; Oral cleft; Ovotestis; Primary amenorrhea; Pulmonary artery stenosis; Pulmonary hypoplasia; Pulmonic stenosis; Renal agenesis; Sex reversal; Short stature; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia


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