Chromosome Analysis, Instability Syndrome
Use
This test is used for chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA). Fanconi anemia is a rare, heterogeneous autosomal recessive disorder. Clinical findings include anemia, bone marrow failure, bone and/or skeletal defects, delayed growth, and some cases congenital heart defects. The analysis detects spontaneous and induced chromosome breakage, providing information crucial for diagnosing this condition.
Special Instructions
Not provided.
Limitations
The result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies. This test has been developed and its performance characteristics determined by Labcorp and is not cleared or approved by the Food and Drug Administration.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 31208-2 - Specimen source
- 62361-1 - Cells counted
- 62360-3 - Cells analyzed
- 55199-4 - Cells karyotyped.total Bld/T
- 62358-7 - ISCN band level Ql
- 29770-5 - Karyotyp Bld/T
- 62365-2 - Diagnostic imp Spec-Imp
- 48672-0 - Clinical cytogeneticist Spec
Result Turnaround Time
13-18 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (adults), 2.5 mL (neonates)
Minimum Volume
2.5 mL
Container
Green-top (sodium heparin) tube
Collection Instructions
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected.
Storage Instructions
Maintain specimen at room temperature. Specimen may be refrigerated if there is a delay in shipment. Do not freeze.
Causes for Rejection
Use of improper anticoagulant and/or frozen specimen cannot be processed.
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