Involves hybridization of chromosome-specific DNA probes to uncultured cells to detect specific trisomies. Must be done in conjunction with routine chromosome analyses unless chromosome analysis has been done previously.

Probes available

Specimen Requirements: 5-10 cc blood (1-2 cc for newborns) in a green top tube (sodium heparin). Mix well by inverting. Maintain specimen at room temperature. Fixed cells from a previous cytogenetic study can be used. Contact the laboratory to check the availability of fixed cells.

Specimen Requirements: Performed only in conjunction with routine amniotic fluid chromosome studies. Draw 10 cc above amount for routine chromosomes study - minimum of 30cc.

Specimen Requirements: Indicate peripheral blood WBC and % blasts on request form. Bone marrow for cytogenetics should be obtained from the second aspirate. Draw 1-2 cc into a syringe "wetted" with sodium heparin (500 U heparin/cc). Invert syringe to mix with heparin. Immediately add specimen to a tube containing 5-10 ml sterile culture medium. Mix contents of tube well by inverting. Cap tightly and cover with Parafilm. Keep cool (do not freeze). Deliver to laboratory as soon as possible.

Specimen Requirements: Biopsy site should be cleaned using a sterile gauze pad saturated with acetone. DO NOT use antiseptic soaps or iodine. Allow to dry. If local anesthetic is used, we recommend a lidocaine solution without epinephrine. Obtain a piece of skin (full thickness) 3-5 mm in diameter. Transfer specimen to a tube containing tissue culture medium [preferred] or sterile isotonic saline solution (tubes available upon request). Fill tube completely. Cap tightly and seal with Parafilm. Refrigerate specimen until shipment (do not freeze).

Turn Around Time:24-48 hrs.

FISH to Rule Out Microdeletions, Microduplications or Translocations

Involves use of DNA probes that hybridize to specific genes or chromosome regions to test for small deletions or translocations. Usually done in conjunction with routine chromosome analysis unless chromosome analysis has been done previously.

Probes available

Specimen Requirements: 5-10 cc blood (1-2 cc for newborns) in a green top tube (sodium heparin). Mix well by inverting. Maintain specimen at room temperature. Fixed cells from a previous cytogenetic study can be used. Contact the laboratory to check the availability of fixed cells.

Specimen Requirements: Performed only in conjunction with routine amniotic fluid chromosome studies. Draw 10 cc above amount for routine chromosomes study - minimum of 30cc.

Specimen Requirements: Indicate peripheral blood WBC and % blasts on request form. Bone marrow for cytogenetics should be obtained from the second aspirate. Draw 1-2 cc into a syringe "wetted" with sodium heparin (500 U heparin/cc). Invert syringe to mix with heparin. Immediately add specimen to a tube containing 5-10 ml sterile culture medium. Mix contents of tube well by inverting. Cap tightly and cover with Parafilm. Keep cool (do not freeze). Deliver to laboratory as soon as possible.

Specimen Requirements: Biopsy site should be cleaned using a sterile gauze pad saturated with acetone. DO NOT use antiseptic soaps or iodine. Allow to dry. If local anesthetic is used, we recommend a lidocaine solution without epinephrine. Obtain a piece of skin (full thickness) 3-5 mm in diameter. Transfer specimen to a tube containing tissue culture medium [preferred] or sterile isotonic saline solution (tubes available upon request). Fill tube completely. Cap tightly and seal with Parafilm. Refrigerate specimen until shipment (do not freeze).

Turn Around Time: Depends on tissue type but generally 7-21 days.