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Chromosome Analysis, Instability Syndrome-994

Test info

Test name:

Chromosome Analysis, Instability Syndrome

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

Fanconi anemia

Tests included:

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

Useful for:

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.

Specimen

Specimen type:

Whole blood

Collection container:

Dk green Sodium heparin (Na hep), no gel

Volume:

5.0 mL (adults); 2.5 mL (neonates)

Minimum volume:

2.5 mL

Collection instructions:

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting.

Processing instructions:

Do not centrifuge

Transport container:

Dk green Sodium heparin (Na hep), no gel

Transport and stability:

Ambient (preferred)

Refrigerated - OK

Frozen - NO

Reason for rejection:

Incorrect anticoagulant
Frozen specimens

Performance

Performing lab:

LabCorp (511045); R-NX

TAT:

13 - 18 days

Method:

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

Clinical and Interpretive info

Reference ranges:

See report

Billing

Tracking

Date created:

05/07/2025

Review date:

05/07/2025