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Test Code SOT; FANCONI BREAKAGE DEB Fanconi Anemia Chromosome Breakage Studies (DEB)

Important Note

Specimen should be received in Referred Testing Department same day of collection due to short stability and shipping constraints. Strict ambient transport. Best practice is to collect Monday through Thursday and avoid holiday shipping times.

Sample MUST be received by performing laboratory as soon as possible after draw, use fastest shipping available (protect from temperature extremes, no ice).  Referred testing department should call Cincinnati Children's 513-636-4474 with pending test request and tracking number.

If the specimen was obtained more than 4 days prior to receipt at Cincinnati Children's Laboratory, it will be considered unacceptable and this testing cannot be performed.

Additional Codes

4626750

Preferred Collection Container

Green-top (sodium heparin)

Collection Instructions

Routine Veniipuncture or Skin biopsy - Cleaned, sterile tissue biopsy, 3-4 mm (shaved of hair follicles) in a tube of transport medium comprised of Base medium (RPMI,DMEM) buffered with Sodium Bicarbonate + 0.04 mg/mL Gentamycin.

Bone marrow aspirate is also acceptabe.

Collection Volume

5 mL

Minimum Collection Volume

3.0 mL

Rejection Criteria

Specimens greater than 96 hours old

Specimen Storage and Stability

Ambient: 96 hours

Day(s) and Time(s) Performed

6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

CPT Coding

88230 (if Blood) or 88233 (if Tissue), 88248, 88249(x2)

Methodology

Baseline study plus both DEB and MCC clastogens (in separate cultures) used to induce breakage (3 cultures total).

Acceptable Collection Container

Green-top (sodium heparin)

Transport

Ambient

Turn Around Time

15 days

LOINC

Not provided

Alias

Breakage Chromosome Study for Fanconi Anemia; DEB Chromosome Breakage Study; MMC Chromosome Breakage Study; Fanconi Anemia Breakage Chromosome Analysis; 226 Chromosome Analysis Fanconi Breakage