CHROMOSOME ANALYSIS:
BLOOD - ROUTINE STUDIES
Standard chromosome analysis for detection of constitutional chromosome aberrations. Banding level 500-550; 2 banded karyotypes, analysis of 20 or more metaphases. Appropriate for trisomy and monosomy syndromes, multiple congenital anomalies, ambiguous genitalia, primary amenorrhea and family members of patients with chromosomal abnormalities.
SPECIMEN REQUIREMENTS:
· Sodium heparin (green top) tubes. (Other anticoagulants are not acceptable).
Newborn: minimum 1-2 ml
Child/Adult: minimum 3-5 ml
A Cytogenetic Laboratory Test Requisition must accompany the specimen. For shipping and handling information, refer to Cytogenetic Specimen Instructions.
· Transport at ambient temperature. Specimen cannot be frozen.
TURNAROUND TIME: 10 days
· For neonatal patients, a verbal preliminary report is available for the referring physician after 48 hours.
CPT CODES: 88230, 88262, 88291, 88263 (if mosaicism)
CHROMOSOME ANALYSIS:
BLOOD - HIGH RESOLUTION STUDIES
High resolution chromosome analysis for detection of subtle chromosome aberrations. Banding level 650-850; 2 banded karyotypes, analysis of 20 or more metaphases. Appropriate for multiple congenital anomalies, mental retardation, family members of patients with subtle chromosomal abnormalities, couples with histories of two or more fetal losses or infertility problems.
SPECIMEN REQUIREMENTS:
· Sodium heparin (green top) tubes. (Other anticoagulants are not acceptable).
Newborn: minimum 1-2 ml
Child/Adult: minimum 3-5 ml
· A Cytogenetic Laboratory Test Requisition must accompany the specimen. For shipping and handling information, refer to Cytogenetic Specimen Instructions.
· Transport at ambient temperature. Specimen cannot be frozen.
TURNAROUND TIME: 10 days
· For neonatal patients, a verbal preliminary report is available for the referring physician after 48 hours.
CPT CODES: 88230, 88262, 88289, 88291, 88263 (if
mosaicism)