Infertility Investigations
It has been estimated that genetics are a contributing factor in up to 10% of couples who experience infertility or recurrent pregnancy loss. Genetic testing can identify gene changes that may cause infertility, whether it is in males or females.
Women who have primary ovarian insufficiency (POI) of unknown cause have a 1/50 chance of being a carrier of Fragile X. The testing of women experiencing either POI or early menopause-like symptoms, for Fragile X, is therefore recommended. Female Fragile X premutation carriers may suffer from Fragile X Associated Primary Ovarian Insufficiency (FXPOI), which can lead to infertility and early menopause in some female carriers. Common symptoms of POI include absent or irregular periods and infertility.
| Test Name | Fragile X |
| Clinical Indication |
|
| Gene(s) | FMR1 |
| Method | PCR Fragment Sizing |
| Turn Around Time | 2 weeks |
| Medicare Eligibility | 73300 - criteria apply |
| Sample Type | Blood |
| Collection Type | 10mL EDTA tube |
| Special Instructions | None |
Deletion of the DAZ cluster of genes on the Y chromosome are a common cause of spermatogenesis failure (azoospermia). The size and gene content of the deletions is associated with the clinical outcome for the patient. Determining the presence and genomic location of these deletions assists in determining the appropriate modes of reproductive assistance for patients.
| Test Name | Y chromosome microdeletion (DAZ Deletion) |
| Clinical Indication | In the investigation of male infertility, to determine genetic cause for azoospermia or oligozoospermia |
| Gene(s) | AZFa, AZFb, AZFc SRY |
| Method | Conventional PCR and capillary electrophoresis |
| Turn Around Time | 14 days |
| Medicare Eligibility | No |
| Sample Type | Blood |
| Collection Type | 6mL EDTA tube |
| Special Instructions | None |
Chromosomal rearrangements may be the underlying cause contributing to infertility or recurrent miscarriage. A balanced rearrangement, such as a translocation, in either partner, is such an example. A conventional chromosome test (karyotype/cytogenetic analysis) is the testing method of choice to determine this.
It involves the analysis of the whole genome at the cellular level to detect large genomic changes and chromosomal rearrangements. Conventional cytogenetic analysis involves culturing white blood cells to produce metaphase spreads of chromosomes, from which slides are prepared and representative cells are captured into digital images.
| Test Name | Chromosomes Blood |
| Clinical Indication |
For investigation of:
|
| Gene(s) | Chromosomal Analysis |
| Method | Conventional chromosome analysis |
| Turn Around Time | 35 days |
| Medicare Eligibility | 73289 |
| Sample Type | Blood |
| Collection Type | 10mL Lithium Heparin; For Difficult/ bleeds Collect: Min 1mL |
| Special Instructions | Transport cooled or at room temperature. |
The majority of men with Cystic Fibrosis (CF) have associated congenital bilateral absence of the vas deferens (CBVAD). This abnormality is associated with Cystic Fibrosis transmembrane conductance regulator (CFTR) variations leading to classic presentation of CF.Patients may however, still have CFTR variants without the classic CF symptoms, whilst still having CBVAD 1
| Test Name | Cystic Fibrosis |
| Clinical Indication |
For the investigation of male fertility |
| Gene(s) | CFTR |
| Method | Allele-specific PCR fragment size analysis |
| Turn Around Time | 2 weeks |
| Medicare Eligibility | Yes – criteria apply |
| Medicare Descriptor | 73345 |
| Sample Type | Blood |
| Collection Type | 10mL EDTA tube |
| Special Instructions | Must be specialist referred to be MBS-eligible |
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Sokol, RZ (2001). Infertility in men with cystic fibrosis. Curr. Opin. Pulm. Med. Nov; 7(6):421-6.