Progesterone Receptor Allele
Summary
Unexplained
infertility is estimated to occur in up to 20% of couples seeking
evaluation for infertility. Luteal phase defect has been proposed as an
etiology for a proportion of these women since progesterone has long been
known essential for implantation. A genetic mutation in the progesterone
receptor (PROGINS) has been identified and reported to be more prevalent
among women experiencing unexplained infertility compared with fertile
control women. This mutation has also been related to an increased risk of
non-familial breast and ovarian cancer.
Indication for Testing
All women
experiencing unexplained infertility and implantation failure after
assisted reproductive technologies as well as. Those women at increased
risk for breast and ovarian cancer should be tested for Progesterone
Receptor Allele mutations.
Detection Method
Progesterone Receptor
Allele mutations are tested by DNA sequencing for the presence of:
- Alu insertion at intron G
- G to T point mutation in first nucleotide of codon 660 within exon
4, resulting in a valine to leucine substitution
- C to T point mutation in third nucleotide of codon 770 within exon 5
(silent)
Interpretation of results
Results are reported as
mutations present or absent.
Specimen Collection, Handling and Shipping
Requirements
- Collect a sample DNA with a buccal swab.
- Ship at room temperature in prepaid FedEx mailer overnight, next day
delivery.
Turn Around Time
Processing of specimens
begins immediately upon receipt at our facilities. Results are routinely
available within 10 to 14 days and are initially faxed, then mailed to the
requesting physician.
Cost
Included in our test are specimen
collection and shipping materials, shipping charges, telephone and written
reports as well as consultations with the referring physicians. Please
call (312) 274-1928 for pricing information.
References
Pisarska MD et
al. A mutated progesterone receptor allele is more prevalent in
unexplained infertility. Fertil Steril 2003;80:651-653.
Kiebeck DG, Tong XW, Wiegel NL, Agoulnick IU. A genetic mutation in the
progesterone receptor (PROGINS) leads to an increased risk of nonfamilial
breast and ovarian cancer causing inadequate control of estrogen driven
proliferation. (Abstract no. 6). Gynecologic Investigation 1998;5 (Suppl
1):40a.
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