Background:
Skin Biopsy
Chromosome analysis of skin fibroblasts may be useful when a patient has a low white blood cell count and peripheral blood does not yield sufficient cells to examine. In addition, some patients have different karyotypes in various tissues in the body. Chromosome study of skin fibroblasts may be appropriate following a normal blood chromosome analysis when there is high clinical suspicion of a chromosome syndrome, such as Down syndrome.
Products of Conception
At least half of all pregnancy losses in the first trimester have a chromosome abnormality. Karyotype analysis of the tissue allows detection of imbalances that may explain the loss to the parents. In addition, structural aberrations may be observed that may have been inherited from a parent carrying a balanced form of a chromosome rearrangement. Balanced rearrangement carriers are at increased risk for having offspring with congenital anomalies, and intellectual and/or developmental delays.
Stillbirths and Neonatal Deaths
Approximately one percent of births have a chromosome abnormality. Chromosome analysis of fresh tissue or blood may explain the reason for demise and may uncover an abnormality that increases the parents’ risk for recurrence.
Methodology:
Chromosome analysis (karyotyping) with banding (>500 bands)
Reflex testing to FISH as appropriate to confirm diagnosis.
Specimen Requirements:
Skin:
- 3 cubic mm full thickness skin biopsy obtained under sterile conditions (should be deep enough to draw blood) or
- Two T-25 flasks of cultured fibroblasts
Skin biopsy specimens must be suspended in sterile culture media (RPMI or DMEM) or non-bacteriostatic normal saline in a sterile container and shipped at ambient temperature by express overnight delivery. DO NOT REFRIGERATE OR FREEZE!
Abortuses, Stillbirths and Neonatal Deaths:
Tissue Choices:
If no identifiable fetus:
- Entire specimen
- Biopsy of fetal side of placenta
- Fetal membranes
If fetus, stillbirth, or neonatal death:
- Amniotic fluid may be collected prior to elective termination.
- At least one sample each of fetal side of placenta and membrane
- In addition to the above, choose at least two tissues from the following list:
a. tendon
b. cardiac muscle
c. peritoneum
d. lung
e. gonadal tissue
If available, cord blood or cardiac blood.
Tissue must be suspended in sterile culture media (RPMI or DMEM) or non-bacteriostatic normal saline in a sterile container and shipped at ambient temperature by express overnight delivery. Cord blood or cardiac blood should be collected in sodium heparin. DO NOT REFRIGERATE OR FREEZE!
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Mon - Sat
Turn Around Time:
10-21 Days
Shipment Sensitivity Requirements:
- Keep specimen at room temperature during transit.
- Please contact Client Services at (855) 535-1522 for shipping kits and instructions.
- Do not use the cold pack provided in the KDL shipping kit.
- Ship the specimen overnight express, using the FedEx priority overnight label provided.
- The specimen must arrive at the lab no more than 24 hours after collection.
References:
Additional Info:
After hours, please leave message at (855) 535-1522 for cytogeneticist on call.