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Quick List

• ACTA2 Gene
• Bruck Syndrome
• Caffey Disease
• COL1A1 and COL1A2 Genes
• COL3A1 Gene
• Collagen Screening
• Individual OI Genes
• EDS type VII
• Known Mutation Testing
• Prenatal Testing
• Recessive OI Panel
• SLC2A10 Gene
• SMAD3 Gene
• TGFBR1 and TGFBR2 Genes
• Vascular Aneurysm Panel
• Costs and CPT Codes

Specimen Collection Instructions

Submitting a sample for Molecular Studies
(DNA-based testing)

Please send ONE of the following types of specimens:

• PREFERRED:  EDTA whole blood (purple top): 7 cc (3 cc for newborns).  Whole blood may be stored at 4°C until shipped and is stable for 3-5 days in the refrigerator.
• Extracted DNA:  a minimum of 150μl at a concentration of at least 200ng/μl

Blood samples (or DNA) should be well labeled with patient's full name and an identifying number.

Ship overnight (Monday through Friday delivery) at room temperature.

Submitting a sample for Prenatal Testing:

Amniocytes: Two confluent T-25 flasks of cultured amniocytes, well-labeled as Prenatal Sample.   Please call ahead to notify the CDL that a prenatal sample will be coming.
CVS Cells:  Two confluent T-25 flasks of cultured CVS cells, well-labeled as Prenatal Sample.

Submitting a Sample for Collagen Screening - Biochemical Studies:

Please send ONE of the following types of specimens:

• Two confluent T25 flasks of cultured fibroblasts. Please only label the sides of flasks.  Please fill all flasks to capacity with cell culture media.
• A single skin biopsy (2-3 mm in diameter) in tissue culture medium

Skin biopsy procedure:

We prefer to receive cultured cells but are able to accommodate the receipt of a biopsy if facilities for explant are not available to you.

Skin specimens are best obtained from the back upper arm. Cleanse the area with alcohol.

DO NOT use iodine for cleansing as it will inhibit cell growth.

Only a small sample of skin is required, approximately 2-3mm in diameter. A disposable "punch biopsy" works best. Immediately place the skin sample in tissue culture medium (such as RPMI) or viral transport medium.

Transport the biopsy immediately to a Cytogenetics tissue culture laboratory for explant or directly to the CDL.

For all samples:

Please be sure that patient identification is clearly labeled directly on every sample tube and that it matches the requisition form.

For extracted DNA samples please include volume and concentration.

All sample types can be shipped at ambient temperature via an overnight courier.