Specialized Testing

Chromosomal Abnormality Studies

Patients may utilize any RML Drawing Site without scheduling for a special collection. If the patient is to be drawn in the physician's office, please use the following protocol. Refer to the test name below in the Test Directory for more instructions:

Chromosomes for Standard Analysis

Chromosome Analysis - Routine  

 Order Name: CHROMO BLD
Test Number: 0113475
Clinical Use
Performed on a whole blood specimen useful in aiding in the diagnosis of Down Syndrome, Infertility Karyotype, Klinefelters Syndrome, Turners Syndrome. Also used in investigations for chromosomal abnormality in parents dealing with spontaneous abortion.
Specimen Requirements
Whole Blood 5mL (3mL minimum) in a Dark Green Sodium Heparin tube. Keep specimen at Room Temperature. Do not centrifuge.

Chromosome Analysis - High Resolution

 Order Name: CHROMO HI
Test Number: 0112875
Clinical Use
Performed on a whole blood specimen, a higher resolution banding method is utilized in aiding in the diagnosis of Down Syndrome, Infertility Karyotype, Klinefelters Syndrome, Turners Syndrome. 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
Whole Blood 5mL (3mL minimum) in a Dark Green Sodium Heparin tube. Keep specimen at Room Temperature. Do not centrifuge.

Chromosome Analysis - Products of Conception

 Order Name: CHROMO TX
Test Number: 0113500
Clinical Use
Standard chromosome analysis of products of conception and fetal demise specimens to detect chromosomal causes of fetal loss.
Specimen Requirements
At least 5x5 mm section of "viable" tissue, chorionic villi, placenta, skin or cord submitted in RPMI with antibiotics or sterile Ringer's solution using a sterile container. Please send at Room Temperature (DO NOT Refrigerate or Freeze). Frozen samples will be rejected. Specifically label the container to be used for cytogenetic testing, indicating the patient name, that it is for cytogenetic testing, and the date that it was acquired.
 

Click Here to view Oncology Chromosome studies
 

Click Here to view Amniotic Chromosome studies

Specialized Testing