| Patient Preparations: |
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| Specimen Requirements: |
Skin biopsy: 1-2mm punch biopsy OR Amniotic fluid: 15-20ml amniotic fluid |
| Specimen Handling & Transport: |
Store and transport specimens at room temperature (may transport with coolant during hot weather, >85 degrees F). DO NOT FREEZE. The laboratory must receive specimens within 24 to 48 hours of collection. |
| Collection Kit/Container: |
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| Collection Instructions: |
Contact the laboratory (608-262-0402) to obtain desired collection kit.
** Skin biopsies: Skin should be cleaned using alcohol; do not use iodine or betadine as these will compromise the cell growth in culture. Do a 1-2mm punch biopsy that goes full depth through the epidermis into the sub-cutaneous fat. Place the specimen in a sterile tissue vial containing transport media.
** Amniotic fluid: Collect amniotic fluid under sterile, ultrasound guided conditions using a 22-gauge needle inserted through the uterine wall and into the amniotic cavity. Discard the first 1-2ml of amniotic fluid to minimize the possibility of maternal cell contamination, and dispense 15-20 ml of the remaining fluid into two or three sterile 15 ml centrifuge tubes. |
| Unacceptable Conditions: |
Sample must not be frozen or processed with formalin. |
| Requisition Form: |
Cytogenetics Lab Genetic Diagnosis Form #131
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| Required Information: |
Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label. **Forms for the reference lab must be completed and submitted with the specimen. |
