PREMATURE OVARIAN INSSUFICIENCY
Why get tested?
The test allows to identify subjects with ovarian failure and oocyte depletion before the age of physiological menopause. It is recommended in women with primary, secondary amenorrhea or in family members of affected subjects.
What the test detects
The test looks for the presence of pathogenetic variations in the genes FMR1, BMP15, FIGLA, NOBOX, NR5A1, STAG3, ERCC6, PGRMC1, DACH2, GDF9, FOXL2, SYCE1, FLJ22792, POU5F1, TGFBR3, INHA, SPIDR, FOXO1, SOHO3 SOHLH2, NANOS3, HFM1, SYNE1, FANCM, MSH5, FSHR, MCM9, MRPS22, PSMC3IP and NUP107 in subjects with ovarian failure and oocyte depletion before the age of physiological menopause.
How testing works
The genetic test consists in the execution of a blood sample, in the extraction of the genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of the genes BMP15, FIGLA, NOBOX, NR5A1, STAG3, ERCC6, PGRMC1, DACH2, GDF9, FOXL2, SYCE1, FLJ22792, POU5F1, TGFBR3, INHA, SPIDR, FOXO3, SOHLH1, SOHLH2, NANOS3, HFM1, SYNE1, FANCM, MSH5, FSHR, MCM9, MRPS22, NUPMC7IP and NUP107 with NGS technology. The quantification of the number of CGG triplets in the FMR1 gene responsible for Fragile X Syndrome, is performed by PCR assay from genomic DNA.
Reporting time
Results in 30 working days.
Sensitivity and specificity
Analytical sensitivity > 99%, analitical specificity 98,4%.