511045: Chromosome Analysis, Instability Syndrome

Test Details

Methodology

Spontaneous and induced (DEB/mitomycin C) chromosome breakage rate increase

Result Turnaround Time

13 - 18 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.

Test Includes

Specific instability testing (see Methodology); G-banded chromosome analysis

Use

This test is used for chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA).

Chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA).

This test is used for chromosome analysis with DEB-induced breakage to assist in the diagnosis of Fanconi anemia (FA).

Limitations

This result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies.

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

This result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies.

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), 2.5 mL (neonates)

~~1 to 4 mL~~

5 mL (adults), 2.5 mL (neonates)

Minimum Volume

2.5 mL

Container

Green-top (sodium heparin) tube

Green-top (heparin) tube

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. Use of improper anticoagulant and/or frozen specimen cannot be processed.

Storage Instructions

Maintain specimen at room temperature. Specimen 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; clotted specimen; specimen over 48 hours old~~