Premature Ovarian Failure (POF)

Premature ovarian failure (POF) is defined as amenorrhea in women under the age of 40, elevated gonadotrophin levels and reduced estrogen levels. POF is a common condition, affecting about 1% of women. POF may present as an absence of menarche (primary amenorrhea) or as premature postpubertal amenorrhea (secondary amenorrhea). Loss of ovarian function may be the result of an absence of follicles, an increased rate of follicular atresia, or follicular unresponsiveness to hormone stimulation. Although approximately 5-10% of women are still able to conceive after a diagnosis of POF, most women with POF have a permanent loss of fertility. Additionally, due to prematurely low levels of estrogen, women with POF may experience menopausal symptoms and may be at an increased risk for osteoporosis and cardiovascular disease. Management can include hormone replacement therapy and infertility treatment. Additionally, early intervention for women with a family history of POF provides the opportunity for early family planning and/or storage of oocytes.

Tests Available

Forms and Documents

Test Details

BMP15, CYP17A1, CYP19A1, ESR1, FGFR1, FIGLA, FSHR, GDF9, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, POR, PROK2, PROKR2, PSMC3IP, SEMA3A, TAC3, TACR3, WDR11
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with POF
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

677
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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