Y Chromosome Microdeletion Analysis

TEST: 512116
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CPT: 81403
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Synonyms

  • AZF
  • azoospermia
  • infertility
  • normal chromosomes reflex to Y microdeletion
  • oligospermia
  • Sertoli-cell only syndrome
  • Y microdeletion

Expected Turnaround Time

7 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood or PurFlock buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab) or saliva collected in an Oragene Dx 500 saliva collection kit

Volume

5 mL whole blood or PurFlock buccal swab kit or 2.0 mL saliva

Minimum Volume

2 mL whole blood or PurFlock buccal swab kit or 0.5 mL saliva

Container

Lavender-top (EDTA) tube, pink-top (EDTA) tube, tan-top (EDTA) tube, yellow-top (ACD) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Collection

Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

Stability Requirements

Temperature

Period

Room temperature

Whole blood: 14 days; buccal: 60 days; saliva: 60 days

Refrigerated

30 days

Causes for Rejection

Frozen specimen, hemolysis, quantity not sufficient for analysis, improper container, specimen age outside of stability window

Test Details

Use

This test identifies Y microdeletions associated with male infertility to support diagnosis and determine genetic basis of laboratory findings. It may provide information about prognosis.

Deletions of all or part of three azoospermia factor chromosome regions located on the Y chromosome (Yq11.23), designated AZFa, AZFb, and AZFc, are detected in approximately 5% of individuals with clinical symptoms ranging from azoospermia to oligospermia. AZFa deletions are usually associated with Sertoli cell-only syndrome and azoospermia. AZFb or AZFb+c deletions are usually associated with severe azoospermia. AZFc deletions may be associated with oligospermia, Sertoli cell-only syndrome and azoospermia. In vitro fertilization using intracytoplasmic sperm injection may be successful in individuals with AZFc deletions. AZFc deletions may be passed down to offspring conceived by intracytoplasmic sperm injection.

Limitations

False positive or negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Multiplex polymerase chain reaction (PCR) using primers corresponding to the following sequence tagged sites (loci) on the Y chromosome: SY14(SRY), SY81(DYS271), SY86(DYS148), SY84(DYS273), SY182 (KALY), SY121(DYS212), SYPR3(SMCY), SY124(DYS215), SY127(DYS218), SY128(DYS219), SY130(DYS221), SY133(DYS223), SY134(DYS224), SY145(DYF51S1), SY152(DYS236), SY242(DAZ), SY208(DAZ), SY254(DAZ), SY255(DAZ), SY157(DYS240), and controls SMCX and ZFX/ZFY.

Additional Information

Do not eat, drink, smoke or chew gum 30 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

References

Fan Y, Silber SJ. Y Chromosome Infertility. Adam MP, Mirzaa GM, Pagon RA, et al., editors. In GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2002 Oct 31 [updated 2019 Aug 1].20301513
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014 Jan;2(1):5-19.24357628

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
512116 Y Chromosome Microdeletion 35456-3 512117 Y Chromosome Microdeletion 35456-3
512116 Y Chromosome Microdeletion 35456-3 511945 PDF 51969-4

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