SYNLAB
Praxis für Humangenetik Jena

Androgenresistenz (AIS)

Ihr regionales Labor für Rückfragen und Beauftragung
Material Dauer Akkreditierung
3 - 5 ml EDTA-Blut 4 Wochen ja
Untersuchte Bereiche / Gene
Gen/Region OMIM-P Erbgang Erkrankung Methodik
AR 300068 XLR Androgenresistenz (AIS) MLPA-Analyse, Sanger-Sequenzierung, Short-Read-NGS
HPO Terms
Abnormal circulating estrogen level|Abnormal circulating follicle-stimulating hormone concentration|Abnormal circulating lipid concentration|Abnormal morphology of female internal genitalia|Abnormal rib cage morphology|Abnormal uterine cervix morphology|Abnormality of movement|Abnormality of secondary sexual hair|Abnormality of the endocrine system|Abnormality of the mouth|Abnormally high-pitched voice|Absent axillary hair|Absent facial hair|Absent pubic hair|Absent vas deferens|Acne|Adult onset|Ambiguous genitalia|Anal atresia|Androgen insufficiency|Anxiety|Aplasia of the ovary|Aplasia of the uterus|Aplasia/Hypoplasia of the fallopian tube|Azoospermia|Bifid scrotum|Bilateral cryptorchidism|Blind vagina|Bulbar palsy|Calf muscle hypertrophy|Cleft palate|Clitoral hypertrophy|Congenital diaphragmatic hernia|Congenital onset|Cryptorchidism|Decreased fertility|Delayed puberty|Depression|Displacement of the urethral meatus|Dysarthria|Dysphagia|Dysphonia|Elevated circulating creatine kinase concentration|Elevated circulating follicle stimulating hormone level|Elevated circulating luteinizing hormone level|Erectile dysfunction|Esophageal atresia|Fasciculations|Female external genitalia in individual with 46,XY karyotype|Fused labia majora|Gait disturbance|Germ cell neoplasia|Growth abnormality|Gynecomastia|Hypogonadism|Hyporeflexia|Hypospadias|Hypotonia|Increased circulating antimullerian hormone concentration|Increased serum estradiol|Increased serum testosterone level|Infertility|Inguinal hernia|Insulin insensitivity|Labial hypoplasia|Limb muscle weakness|Male infertility|Male pseudohermaphroditism|Male sexual dysfunction|Micropenis|Muscle spasm|Neoplasm|Omphalocele|Perineal hypospadias|Peripheral neuropathy|Primary amenorrhea|Prostate cancer|Sensory neuropathy|Skeletal muscle atrophy|Slowly progressive|Small for gestational age|Sparse axillary hair|Sparse pubic hair|Tall stature|Testicular atrophy|Testicular neoplasm|Tremor|Type II diabetes mellitus|Urethral diverticulum|Urogenital sinus anomaly|Ventral shortening of foreskin|X-linked inheritance|X-linked recessive inheritance
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant. Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
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