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  



  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-AlportAlport Syndrome
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-PPK/CIPalmoplantar keratoderma / congenital ichthyosis
CS-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome

 
Male Infertility

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADGRG2Xp22.1397.91%gene with protein product300572GPR64Absent vas deferens; Azoospermia; Male infertility; Obstructive azoospermia; X-linked inheritanceMale Infertility
AK714q32.299.99%gene with protein product615364Male Infertility
AURKC19q13.43100%gene with protein product603495STK13Autosomal recessive inheritance; Functional abnormality of male internal genitalia; Male infertilityMale Infertility
BRDT1p22.199.72%gene with protein product602144Male Infertility
CATSPER111q13.199.96%gene with protein product606389Autosomal recessive inheritance; Male infertility; Nonmotile sperm; Oligospermia; Reduced sperm motilityMale Infertility
CFAP4310q25.199.99%gene with protein product617558C10orf79, WDR96Male Infertility
CFAP443q13.299.94%gene with protein product617559WDR52Male Infertility
CFAP697q21.1399.72%gene with protein productC7orf63Male Infertility
CFTR7q31.299.41%gene with protein product602421CF, ABCC7Abdominal pain; Abnormal enzyme/coenzyme activity; Absent vas deferens; Asthma; Autosomal recessive inheritance; Azoospermia; Biliary cirrhosis; Bronchiectasis; Chronic lung disease; Cor pulmonale; Decreased antibody level in blood; Decreased testicular size; Elevated C-reactive protein level; Elevated sweat chloride; Exocrine pancreatic insufficiency; Failure to thrive; Heterogeneous; Hypercalciuria; Immunodeficiency; Increased circulating gonadotropin level; Leukocytosis; Malabsorption; Male infertility; Meconium ileus; Non-obstructive azoospermia; Obstructive azoospermia; Pulmonary fibrosis; Rectal prolapse; Recurrent bronchopulmonary infections; Recurrent pancreatitis; Recurrent pneumonia; Recurrent respiratory infectionsMale Infertility
DNAH13p21.1100%gene with protein product603332Recurrent respiratory infectionsHeterotaxy ; Male Infertility
DPY19L212q14.297.69%gene with protein product613893Autosomal recessive inheritance; GlobozoospermiaMale Infertility
KLHL1017q21.2100%gene with protein product608778Autosomal dominant inheritance; Decreased testicular size; Increased circulating gonadotropin level; Infertility; Non-obstructive azoospermia; Obstructive azoospermiaMale Infertility
MEIOB16p13.399.46%gene with protein product617670C16orf73Decreased testicular size; Increased circulating gonadotropin level; Non-obstructive azoospermia; Obstructive azoospermiaMale Infertility
NANOS110q26.1199.94%gene with protein product608226Autosomal dominant inheritance; Azoospermia; Decreased testicular size; Globozoospermia; Increased circulating gonadotropin level; Infertility; Non-obstructive azoospermia; Obstructive azoospermia; Sperm tail anomalyMale Infertility
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
PLCZ112p12.399.97%gene with protein product608075Autosomal recessive inheritance; InfertilityMale Infertility
SEPT1216p13.3100%gene with protein product611562Autosomal dominant inheritance; InfertilityMale Infertility
SLC26A86p21.31100%gene with protein product608480Autosomal dominant inheritanceMale Infertility
SPATA163q26.31100%gene with protein product609856Autosomal recessive inheritance; Globozoospermia; InfertilityMale Infertility
SUN520q11.21100%gene with protein product613942SPAG4LAcephalic spermatozoa; Autosomal recessive inheritance; Infertility; Reduced sperm motilityMale Infertility
SYCE110q26.3100%gene with protein product611486C10orf94Autosomal recessive inheritance; Decreased testicular size; Increased circulating gonadotropin level; Macular dystrophy; Microphthalmia; Non-obstructive azoospermia; Obstructive azoospermia; Primary amenorrheaMale Infertility
SYCP312q23.2100%gene with protein product604759Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Non-obstructive azoospermia; Obstructive azoospermia; Recurrent spontaneous abortionMale Infertility
TAF4B18q11.1100%gene with protein product601689TAF2C2Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Non-obstructive azoospermia; Obstructive azoospermiaMale Infertility
TEX11Xp1196.82%gene with protein product300311Abnormality of metabolism/homeostasis; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Male infertility; Non-obstructive azoospermia; Obstructive azoospermia; X-linked recessive inheritanceMale Infertility
TEX1417q2299.92%gene with protein product605792Male Infertility
TEX158p12100%gene with protein product605795Male Infertility
TSGA102q11.2100%gene with protein product607166Male Infertility
USP9YYq11.22140.69%gene with protein product400005Azoospermia; Decreased testicular size; Male infertility; Non-obstructive azoospermia; Oligospermia; Y-linked inheritanceMale Infertility
ZMYND1517p13.2100%gene with protein product614312Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Non-obstructive azoospermia; Obstructive azoospermiaMale 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.