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Chromosome Analysis, Whole Blood (Constitutional) With Reflex for Y Deletion Analysis

Test Number 512138
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  • Updated on 03/25/2025

Test Details

Methodology

Routine lymphocyte culture, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) applied as needed. If chromosomes are normal, 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.

Result Turnaround Time

25 - 28 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.

Use

This test evaluates infertility, hypogonadism, Klinefelter syndrome, and balanced or unbalanced chromosomal rearrangements that correlate with oligospermia/azoospermia.

Special Instructions

Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age and suspected diagnosis.

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.

Specimen Requirements

Specimen

Whole blood

Volume

5 mL (adults), 2 mL (neonates) for each tube

7 mL whole blood each tube

5 mL (adults), 2 mL (neonates) for each tube

Minimum Volume

2 mL each tube

3 mL whole blood each tube

2 mL each tube

Container

Green-top (sodium heparin) tube and lavender-top (EDTA) tube

Green-top (heparin) tube and lavender-top (EDTA) tube

Green-top (sodium heparin) tube and lavender-top (EDTA) tube

Collection Instructions

Using sterile technique, collect 5 mL of whole blood into a green-top (sodium heparin) tube or syringe and collect 5 mL whole blood into a lavender-top (EDTA) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant and/or frozen specimen cannot be processed.

 

Using sterile technique, collect 10 mL whole blood into a sodium heparin tube or syringe. Invert the tube several times to prevent coagulation. Specimens must be sent the same day as collected and arrive in the laboratory Monday through Saturday and within 72 hours of collection.

Using sterile technique, collect 5 mL of whole blood into a green-top (sodium heparin) tube or syringe and collect 5 mL whole blood into a lavender-top (EDTA) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected. Use of improper anticoagulant and/or frozen specimen cannot be processed.

 

Storage Instructions

Specimen should be delivered to the laboratory immediately. Maintain specimen at room temperature. Specimens may be refrigerated if there is a delay in shipment. Do not freeze.

Causes for Rejection

Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.

Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen

Upon receipt, suitability of specimen will be determined by the Cytogenetics laboratory.

References

Fan Y, Silber SJ. Y Chromosome Infertility. In: 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
512138 Chromosome Routine Rfx DAZ 512543 Specimen Type 31208-2
512138 Chromosome Routine Rfx DAZ 512544 Cells Counted 62361-1
512138 Chromosome Routine Rfx DAZ 512545 Cells Analyzed 62360-3
512138 Chromosome Routine Rfx DAZ 512546 Cells Karyotyped 55199-4
512138 Chromosome Routine Rfx DAZ 512547 GTG Band Resolution Achieved 62358-7
512138 Chromosome Routine Rfx DAZ 512548 Cytogenetic Result 29770-5
512138 Chromosome Routine Rfx DAZ 511023 Interpretation 62365-2
512138 Chromosome Routine Rfx DAZ 511024 Director Review: 48672-0
512138 Chromosome Routine Rfx DAZ 512139 Reflex N/A
512138 Chromosome Routine Rfx DAZ 512123 PDF 11502-2
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512543
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512544
Result Code NameCells Counted
UofM
Result LOINC62361-1
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512545
Result Code NameCells Analyzed
UofM
Result LOINC62360-3
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512546
Result Code NameCells Karyotyped
UofM
Result LOINC55199-4
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512547
Result Code NameGTG Band Resolution Achieved
UofM
Result LOINC62358-7
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512548
Result Code NameCytogenetic Result
UofM
Result LOINC29770-5
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code511023
Result Code NameInterpretation
UofM
Result LOINC62365-2
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code511024
Result Code NameDirector Review:
UofM
Result LOINC48672-0
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512139
Result Code NameReflex
UofM
Result LOINCN/A
Order Code512138
Order Code NameChromosome Routine Rfx DAZ
Order Loinc
Result Code512123
Result Code NamePDF
UofM
Result LOINC11502-2
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 512116 Y Chromosome Microdeletion 512117 Y Chromosome Microdeletion 35456-3
Reflex 1
Order Code512116
Order NameY Chromosome Microdeletion
Result Code512117
Result NameY Chromosome Microdeletion
UofM
Result LOINC35456-3
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 512116 Y Chromosome Microdeletion 511945 PDF 51969-4
Reflex 1
Order Code512116
Order NameY Chromosome Microdeletion
Result Code511945
Result NamePDF
UofM
Result LOINC51969-4