Infertility Panel: Male (Chromosomes, Cystic Fibrosis Common Mutations, Y-MicroDeletion)
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Name
Infertility Panel: Male (Chromosomes, Cystic Fibrosis Common Mutations, Y-MicroDeletion)
Synonyms
Mosaic Chromosome Analysis, Y Chromosome Microdeletion (AZFa, AZFb, AZFc, AZFd), CFTR Mutation Panel
Test Code
XM050
Indication
This test is indicated for men with infertility due to azoospermia or oligospermia.
CPT Codes
81220 (x1), 81224 (x1), 81403 (x1), 81479 (x1)
Turn around time
2 weeks
This test can be found on the following requisition form(s):

Comprehensive Molecular Test Requisition Form

Comprehensive Cytogenetic Test Requisition Form


To order this test online, click the link below:

Order this test online

Additional Specimen Collection/Handling Instructions Required for this Test
Both tube types are required for this test.  Testing cannot be initiated until both tubes are received.
Type Specimen Requirements Specimen Collection and Shipping
Whole BloodIn EDTA (purple top) or ACD (yellow top) tube: 5-10 ml

AND

In sodium heparin (green top) tube: 3-5 ml
Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.
Condition Description
Infertility is defined as the failure to conceive after a couple attempts to become pregnant for 12 months or more. This panel tests for genetic causes of male infertility due to azoospermia and oligospermia (mild, moderate or severe) including: mosaic chromosome analysis, Y chromosome microdeletion, and CFTR mutation analysis.

Approximately 5-10% of males with non-obstructive azoospermia, oligospermia, or other abnormalities of sperm morphology or motility are caused by structural or numerical abnormalities, including Y chromosome microdeletions. Mosaic chromosome analysis is used to detect chromosomal abnormalities including sex chromosome aneuploidies, chromosomal mosaicism, and chromosomal rearrangements. Sex chromosome aneuploidies may include conditions such as Klinefelter syndrome (47,XXY). Chromosomal mosaicism is defined as the presence of two or more cell populations with different chromosomes. Testing for chromosomal mosaicism provides a more thorough chromosome analysis by examining a total of 50 cells (30 additional cell counts). Chromosomal rearrangements that can cause male infertility, including large deletions (deletion of Yq12) or structural abnormalities (including pseudodicentric Y inversions or translocations) are detectable by this assay. Results from chromosome analysis may suggest investigation of other single gene disorders of sex development when the karyotype results are discordant from the phenotypic gender of the patient (such as translocation of SRY or SOX 9 duplication).

Approximately 5-10% of males with non-obstructive azoospermia or oligospermia have microdeletions in the AZFa, AZFb, AZFc or AZFd regions on the Y chromosome that are not detectable by standard cytogenetic methods. Each AZF region contains multiple genes that are involved in different stages of spermatogenesis. Most cases of Y chromosome microdeletions are new mutations. If assistive reproductive technologies are used, a male child receiving the Y chromosome will have the microdeletion, and therefore, all sons will be affected.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with obstructive azoospermia and oligospermia. Approximately two-thirds of males with congenital bilateral absence of the vas deferens (CBAVD) have mutations of the CFTR gene. Males with unilateral absence of the vas deferens or obstruction of the epididymides may also have mutations in CFTR. For males carrying CFTR gene mutations, cystic fibrosis (CF) screening is indicated for their partners to better estimate the chance of having a child with CF.

This panel tests for the 39 most common CFTR mutations (listed below), including the core panel of 23 mutations for cystic fibrosis as recommended by the American College of Medical Genetics in 2004.

DeltaF508 DeltaI507 R117H W1282X 3120+1G>A G85E Y122X R334W
R347P R347H A455E V520F G542X S549R S549N A559T
G551D R553X R560T Y1092X M1101K R1162X S1255X N1303K
394delTT 621+1G>T 711+1G>T 1078delT 1717-1G>A 3876delA 1898+1G>A 1898+5G>T
2183AA>G 2184delA 3905insT 2307insA 2789+5G>A 3659delC 3849+10kbC>T  


Genes
Methodology
  • Mosaic chromosome analysis: PHA stimulated cultures are used for G-banded analysis. ISCN nomenclature is followed.
  • Y chromosome microdeletion: Y chromosome deletions are detected by multiplex PCR amplification.
  • CFTR mutation analysis: This test utilizes a PCR based oligoligation assay for 32 CFTR mutations, with positive and negative controls.
Reference Range
Chromosome analysis is by ISCN and ACMG guidelines with a minimum band resolution of 500-550. CFTR mutation detection and Y chromosome microdeletion detection are both qualitative molecular assays.
Detection
  • Mosaic chromosome analysis
  • Y chromosome microdeletion: Over 99% of AZFa, AZFb, AZFc and AZFd deletions will be detected by this assay.
  • CFTR mutation analysis identifies 85-90% of CF mutations in the Caucasian population, 97% in the Ashkenazi Jewish population, 72% in the Hispanic population, and 69% in the African American population.
Related Tests
  • The Female Infertility Panel (MG) is available to screen for common genetic causes of female infertility.
  • Components of this test may be ordered separately if previous genetic testing was performed: CFTR mutation analysis (CF), mosaic chromosome analysis (MM), Y chromosome microdeletions (YD).
Special Instructions