Collect

5 mL WHOLE PERIPHERAL BLOOD or BONE MARROW in a Dark Green Sodium Heparin tube (Na Hep).

-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.

 

-OR-

 

Cultured monolayer fibroblasts  T-25 flasks (x2)

 

Collection personnel MUST initial specimen container to confirm sample identity.

 

Minimum Collection Volume

3 mL of whole peripheral blood or bone marrow in a Dark Green Sodium Heparin tube (Na Hep).

or

2 mm punch skin biopsy.

If a lesser volume of blood is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

Lithium Heparin is also acceptable (which also comes in a green top tube) but may cause culture failure/poor growth.

Patient Preparation

The lab can provide tubes of transport medium - Call (513) 636-4474.

DO NOT USE FORMALIN for tissue specimens, the tissue must be fresh and sterile in order to obtain cell growth.

Sample MUST be received by the lab within 4 days or it will be considered unacceptable.

Specimen Preparation

Label tubes with patient name and date of birth (DOB).

Storage/Transport Temperature

Store at room temperature.

Sample MUST be received as soon as possible after draw, use fastest shipping available (protect from temperature extremes, no ice) or call the lab for local courier service (contact laboratory prior to drawing specimen to ensure courier area coverage).

Performing Lab

Cytogenetics Laboratory (513) 636-4474  /  FAX: (513) 636-4373

Performed

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

Unacceptable Conditions

If the specimen was obtained more than 4 days prior to receipt in lab, it will be considered unacceptable and this testing cannot be performed.

Synonyms

  • BREAKAGE CHROMOSOME STUDY FOR FANCONI ANEMIA
  • DEB CHROMOSOME BREAKAGE STUDY
  • MMC CHROMOSOME BREAKAGE STUDY
  • FANCONI ANEMIA BREAKAGE CHROMOSOME ANALYSIS
  • 226 - CHROMOSOME ANALYSIS : FANCONI BREAKAGE

Methodology

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

 

Reported

14 Days

Common Indications

FANCONI ANEMIA

CPT Codes

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

Please call 1-866-450-4198 for pricing or with any billing questions.

Collection

Collect

5 mL WHOLE PERIPHERAL BLOOD or BONE MARROW in a Dark Green Sodium Heparin tube (Na Hep).

-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.

 

-OR-

 

Cultured monolayer fibroblasts  T-25 flasks (x2)

 

Collection personnel MUST initial specimen container to confirm sample identity.

 

Minimum Collection Volume

3 mL of whole peripheral blood or bone marrow in a Dark Green Sodium Heparin tube (Na Hep).

or

2 mm punch skin biopsy.

If a lesser volume of blood is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

Lithium Heparin is also acceptable (which also comes in a green top tube) but may cause culture failure/poor growth.

Patient Preparation

The lab can provide tubes of transport medium - Call (513) 636-4474.

DO NOT USE FORMALIN for tissue specimens, the tissue must be fresh and sterile in order to obtain cell growth.

Sample MUST be received by the lab within 4 days or it will be considered unacceptable.

Specimen Preparation

Label tubes with patient name and date of birth (DOB).

Storage/Transport Temperature

Store at room temperature.

Sample MUST be received as soon as possible after draw, use fastest shipping available (protect from temperature extremes, no ice) or call the lab for local courier service (contact laboratory prior to drawing specimen to ensure courier area coverage).

Performing Lab

Cytogenetics Laboratory (513) 636-4474  /  FAX: (513) 636-4373

Performed

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

Unacceptable Conditions

If the specimen was obtained more than 4 days prior to receipt in lab, it will be considered unacceptable and this testing cannot be performed.

Ordering

Synonyms

  • BREAKAGE CHROMOSOME STUDY FOR FANCONI ANEMIA
  • DEB CHROMOSOME BREAKAGE STUDY
  • MMC CHROMOSOME BREAKAGE STUDY
  • FANCONI ANEMIA BREAKAGE CHROMOSOME ANALYSIS
  • 226 - CHROMOSOME ANALYSIS : FANCONI BREAKAGE

Methodology

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

 

Reported

14 Days

Result Interpretation

Common Indications

FANCONI ANEMIA

Laboratory Personnel Use

CPT Codes

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

Please call 1-866-450-4198 for pricing or with any billing questions.