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
Oligospermia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CATSPER111q13.199.96%gene with protein product606389Autosomal recessive inheritance; Male infertility; Nonmotile sperm; Oligospermia; Reduced sperm motilityMale Infertility
CATSPER215q15.399.86%gene with protein product607249Abnormal spermatogenesis; Autosomal recessive inheritance; Azoospermia; Bilateral sensorineural hearing impairment; Male infertility; Nonmotile sperm; Oligospermia; Reduced sperm motility; Sensorineural hearing impairment
CNBP3q21.3100%gene with protein productXomeDxSlice is not appropriate.116955DM2, ZNF9Autosomal dominant inheritance; Cataract; Diabetes mellitus; Elevated circulating follicle stimulating hormone level; Elevated serum creatine phosphokinase; Frontal balding; Hypogonadism; IgG deficiency; IgM deficiency; Insulin insensitivity; Iridescent posterior subcapsular cataract; Myalgia; Myotonia; Neck flexor weakness; Oligospermia; Palpitations; Proximal muscle weakness; Tachycardia; Type 2 muscle fiber atrophy
DAZ1Yq11.2230.39%gene with protein product400003DAZAzoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritance
DAZ2Yq11.2233.39%gene with protein product400026Azoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritance
DAZ3Yq11.23gene with protein product400027Azoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritance
DAZ4Yq11.23gene with protein productDecreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia
DDX3YYq11.22141%gene with protein product400010DBYAzoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritance
FSHB11p14.1100%gene with protein product136530Abnormal sperm morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Azoospermia; Bilateral breast hypoplasia; Decreased female libido; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed menarche; Delayed skeletal maturation; Female hypogonadism; Gonadotropin deficiency; Hyperplasia of the Leydig cells; Hypogonadotrophic hypogonadism; Infertility; Male hypogonadism; Oligomenorrhea; Oligospermia; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular atrophy
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
POC1A3p21.2100%gene with protein product614783WDR51AAutosomal recessive inheritance; Brachydactyly; Clinodactyly; Cone-shaped epiphysis; Disproportionate short stature; High pitched voice; Hypoplastic pelvis; Hypoplastic sacrum; Long face; Macrocephaly; Mandibular prognathia; Microcephaly; Microtia; Nail dysplasia; Oligospermia; Pointed chin; Prominent forehead; Prominent nose; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short metatarsal; Small for gestational age; Small hand; Small nail; Sparse hair; Triangular face; Waddling gaitHeterotaxy
RBMY1A1Yq11.223gene with protein product400006RBM1, RBM2Azoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritance
STRC15q15.347.72%gene with protein productPoor coverage due to pseudogene606440DFNB16Abnormal spermatogenesis; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Bilateral sensorineural hearing impairment; Male infertility; Nonmotile sperm; Oligospermia; Reduced sperm motility; Sensorineural hearing impairment
TSPY1Yp11.240.57%gene with protein product480100TSPYDecreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia
USP9YYq11.22140.69%gene with protein product400005Azoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritanceMale Infertility


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