Below is information related to specimen requirements, transport of specimens, testing turnaround time and reports, and genetic counseling. 

For more information, call the Genetics Center Laboratory at 828-213-1015.

Laboratory Requisition Form w/ specimen collection guidelines (PDF)

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Specimen Requirements

• Molecular Genetic Testing
• Chromosome Analysis
• Transport
• Turnaround Times
• Reports
• Genetics Counseling

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Molecular Genetic Testing
For optimal DNA preparation, 3-10 cc of peripheral blood collected in a purple top (EDTA) tube is needed. However, smaller volumes (1-3 cc) from children or infants may be sent.

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Chromosome Analysis

1. From blood: Please send 5-10 cc of peripheral blood collected in a sodium heparin (green top) tube. In newborns, 1-2 cc may be sufficient. Please use green top (sodium heparin) tubes as other anticoagulants such as lithium heparin and ammonium heparin may be toxic to lymphocytes. Do not freeze or refrigerate blood.

2. From amniotic fluid: 20-30 cc of amniotic fluid collected in 2-3 sterile tubes: The first few cc of fluid should be discarded as these are more likely to contain maternal cells.

3. From other tissues (Do not allow the specimen to come into contact with formalin):

   1. Skin biopsy: Using sterile techniques, obtain an approximately 5 mm biopsy and place into a sterile tube containing a transport medium (minimum essential medium [MEM] or balanced salt solution). If transport medium is needed, please contact Fullerton Genetics Laboratory. 

   2. Miscarriage material:Obtain a 5-mm biopsy of unmascerated tissue and place into a sterile tube containing a transport medium as above. Lung, amnion, chorion or gonadal tissues may yield a higher likelihood of successful chromosome study. If fetal material is mascerated, placental material such as membranes or chorionic villi may yield better results for chromosome analysis.

   3. Products of conception: Keep the specimen moist and place in a sterile container for shipping. If necessary, add tissue culture medium using aseptic technique and insure that the specimen is moist. If tissue culture media is not available, sterile saline is acceptable

 

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Transport
Room temperature by overnight delivery service. Do not freeze or refrigerate. 
Ship to:

Fullerton Genetics Center Laboratory
267 McDowell Street
Asheville, NC 28803

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Turnaround Time
Molecular genetic test results are available in 3-7 working days for most tests. Results for Fragile X syndrome, myotonic dystrophy, Prader-Willi syndrome and Angelman syndrome testing typically take 2-3 weeks to complete.

Chromosome analysis results typically are available in 1-4 weeks depending upon the study ordered. For reporting of cytogenetic analysis for peripheral bloods and solid tissues, please allow an average of 3-4 weeks from sample receipt. For amniotic fluid, please allow 7-14 working days from sample receipt. STAT samples are available in 2-4 days. Newborn and pregnant patients are given priority.

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Reports
Reports are faxed and mailed to the referring physicians as soon as test results are available. Please include physician fax and mailing information on the specimen referral form. Copies of the report will be mailed to other physicians or other persons as indicated by the referring physician.

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Genetic Counseling
Consultations with a clinical geneticist or genetic counselor are available by calling the Fullerton Genetics Center at 828-213-0022. Discussion of test results with the molecular genetics director or cytogenetics director are available by calling 828-213-1015.