Chromosome Analysis, Products of Conception/Tissue Biopsy, for Genetic Diagnosis

WSLH Department: Cytogenetics
WSLH Test Code: 831
Availability: Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time: Approximately 7-21 days, with an average of 15 days (longer for specimens with small volume or poor growth in culture). (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses: Determination of fetal karyotype for: miscarriage, fetal demise, stillbirth. Skin biopsies may be used for individuals with suspected tissue mosaicism.
Additional Tests Performed:
Patient Preparations:
Specimen Requirements: **For fetal specimens: placental villus is the preferred tissue; kidney, lung, and/or fascia are also acceptable. Sample size at least 0.3 cm cubed.
**For skin biopsies: 1-2mm punch biopsy.
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 hours of collection.
Collection Kit/Container: Cytogenetics and Molecular Genetics Collection Kit
Collection Instructions: **For fetal specimens: Healthy tissue is pale pink to red in color, indicating an active blood supply. Placenta that includes chorionic villi is usually mottled pink/red. Samples that are solid dark red are usually blood clots and may not contain fetal tissue. Tissue that is pale tan to brown should be avoided if possible as this indicates necrosis. A 0.3-0.5cm cubed section of each tissue type should be collected using aseptic procedures. Place the specimen in a sterile tissue vial containing transport media. If multiple tissues are sent, please place the placenta in one vial and the other tissue(s) in a separate vial to minimize contamination of the tissues.
**For 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.
Contact the laboratory(608-262-0402) to obtain Products of Conception/Tissue kits.
[Kits include: 1-6ml sterile vial with 5ml of F10 media, 1 Test requisition form (#131), and 1 Biohazard bag and absorbent pad. If requested a UPS return label can be supplied with the kit. Store kits at 4C or freeze for up to a year. If requested a UPS return label can be supplied with the kit.]
Unacceptable Conditions: Samples must not be frozen or processed with formalin.
Requisition Form: Cytogenetics Lab Genetic Diagnosis Form #131
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/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results Include: Result written using current International System for Human Cytogenetic Nomenclature (ISCN) and interpretation of results.
Limitations: In cases of pregnancy loss, depending on the length of time a fetus has been deceased, the specimen may fail to grow under any circumstances. Viable cells may be maternally derived.
Additional Tests Recommended: If a structural rearrangement is observed, parental blood chromosome analysis is recommended to determine whether the abnormality is inherited or is de novo and to possibly aid in defining the chromosome rearrangement. Fluorescence in situ hybridization analysis and/or microarray analysis may be recommended to characterize chromosome abnormalities; if performed there will be an additional charge.
Additional Comments: If no fetal material, only maternal decidua, is identified in the specimen, the sample will be processed. Chromosome analysis of maternal tissue may identify a structural rearrangement present in the mothers cells; a balanced maternal karyotype may lead to an unbalanced fetal karyotype.
Methodology: Microscopic analysis of G-banded chromosomes.
Includes: G-banded chromosome analysis of cultured cells from products of conception or tissue biopsy. Includes culture of cells from specimen(s), examination of at least 20 metaphase cells, and preparation of two karyograms. Additional cells may be examined if indicated by initial results. Additional karyograms may be prepared if multiple cell lines are observed.
CPT Code: 88233, 88262
Price: For pricing information, please call 608-262-0402.
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