Culture for Molecular or Biochemical Testing
Establishment of cultures for molecular or biochemical studies is pursued when there is indication of a genetic disease for which testing is available.
The genetic counselors at Colorado Genetics Laboratory can help identify if testing is available for a specific genetic disease and determine what paperwork is needed. Additional paperwork often includes documentation of previously identified familial mutations and requisition forms for the reference laboratory.
A complete listing of tests available and referral laboratories can be found at http://www.genetests.org
Common indications for genetic testing on tissues are:
- Prenatal testing due to family history of a specific condition:
- Cystic fibrosis
- Duchenne/Becker muscular dystrophy
- Sickle cell anemia or thalassemias
- Metabolic syndromes
- Spinal muscular atrophy
- Other familial genetic diseases
- Ultrasound abnormalities
- Polycystic kidney disease
- Other genetic syndromes
- Abnormal maternal serum screening
Tissue specific testing
- Cornelia de Lange
- STS Deficiency
- Metabolic or mitochondrial disorders
- Collagen studies based on family history
Please contact us when tissue culture is needed for molecular or biochemical testing before the sample is obtained to help coordinate this type of testing.
Colorado Genetics Lab establishes cells in culture and prepares the necessary number of flasks for transport. The sample is then transported to the referral laboratory, along with required paperwork previously prepared by the ordering clinic. Charges do apply for shipping the sample to the reference laboratory.
In addition, the Colorado Genetics Laboratory will maintain cells in tissue culture until studies are complete or cryopreserve them for longer-term storage.
Please note: Cryopreserved cells for future studies cannot be held indefinitely due to limited space. If you no longer need cryopreserved cells, please inform the Colorado Genetics Laboratory as soon as possible.
Sample requirements depend on the type of specimen. Additional sample may be needed if cytogenetic testing is being performed concurrently.
- Postnatal specimens
- Tissue Biopsy: Obtain a 3-4 mm sample using asceptic technique. Place in sterile, screw-top tube filled with tissue culture medium or sterile saline solution. Label container with patient's name, a second patient identifier, and the type of sample. Materials for obtaining and shipping a tissue culture sample are available from CGL. Please contact us if these materials are needed.
Each sample must be accompanied by a completed Test Request Form and a Specimen Referral Form Please include pertinent clinical and family history, and the gestational age at the time of specimen collection.