Genetics and Genomics Diagnostic Laboratory
Molecular Genetics Laboratory | Specimen Requirements

Specimen Requirements for Molecular Genetics Tests

Billing and Insurance Preauthorization

Call 1-866-450-4198 for CPT codes, current pricing, insurance precertification or with any billing questions.

Labeling

Label tube(s) with the patient name plus a second identifier (birthdate, laboratory ID, medical record number) that can be found on the requisition.

Shipping

Label each specimen with patient name and second identifier, date all samples and enclose test requisition with sample(s). All information must be completed before sample can be processed. Place sample in Styrofoam mailer and ship at room temperature (unless otherwise noted below) by overnight Federal Express to arrive Monday through Friday. For Saturday delivery, contact the laboratory for instructions. In hot weather, a cool pack can be enclosed. Shipping costs are generally the responsibility of the sender.

Ship to:
Cytogenetics and Molecular Genetics Laboratory
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229

Call 513-636-4474 with Federal Express tracking number once sample is sent.

Blood (Including Cord Blood)

Exceptions       

Blood is the preferred sample type for all tests unless the patient has had a blood transfusion within two weeks of sample collection or has had a heterologous bone marrow transplant (BMT). DNA obtained by skin biopsy is the preferred tissue on which to perform DNA testing for patients having had a previous heterologous BMT. However, DNA isolated from buccal tissue (see below) is also an alternative sample type for the heterologous BMT patient population.

Volume          

One EDTA (lavender top) tube containing 3-5 mL whole sterile blood. Minimum of 1 mL (for small babies). Alternate specimens (e.g., buccal or saliva) should be collected on patients with low white cell counts.    

Stability       

Can be refrigerated up to seven days before shipping. Blood specimens older than seven days can still be shipped; they will be tested if the yield and quality of DNA permits. Do not freeze.

Rejection      

Blood specimens may be rejected if frozen, hemolyzed or clotted.

How to Collect

> Download cell collection instructions.

Exceptions 

Buccal samples can be used for Sanger-based sequencing tests only. Next-generation sequencing tests including NGS panels and exome sequencing require blood specimens or alternate samples. If the patient has had a previous heterologous bone marrow transplant, STR analysis will be performed on the cytobrush sample, at an additional charge, to detect chimerism that could lead to an erroneous result. DNA obtained by skin biopsy is the preferred tissue on which to perform DNA testing for patients having had a previous heterologous bone marrow transplant. 

Kits

Use only Cincinnati Children’s cytobrush (buccal) collection kits. Call 513-636-4474 for overnight delivery of free kit.   

Volume

Two cytobrushes are required for targeted mutation analysis or genetic pharmacology testing. Six cytobrushes are required for Sanger-based full gene sequence analysis.

Stability

Stable at ambient temperature for seven days after collection. Buccal specimens older than seven days can still be shipped; they will be tested if the yield and quality of DNA permit.

How to Collect

> Download saliva collection instructions.

Exceptions

Saliva samples can be used for all tests. If the patient has had a previous heterologous bone marrow transplant, two cytobrushes must also be included on which STR analysis will be performed, at an additional charge, to detect chimerism that could lead to an erroneous result. DNA obtained by skin biopsy is the preferred tissue on which to perform DNA testing for patients having had a previous heterologous bone marrow transplant. 

Kits

Use only Cincinnati Children’s (Oragene) saliva collection kits. Call 513-636-4474 for overnight delivery of free saliva collection kit. 

Volume

Fill to designated line on collection vial.

Stability

Stable for up to one year at ambient temperature. 

For chorionic villi, amniocytes, skin fibroblasts:

Volume

One or two T-25 flasks in sterile culture media grown to NEAR confluence. If possible, retain at least one flask as a backup culture until analysis is completed. Unless otherwise directed, Cincinnati Children’s will culture the cells to obtain our own backup culture.  

Additional requirements: 3mL peripheral blood in an EDTA (purple top) tube or two cytobrushes from the mother must be sent with any prenatal specimen for maternal exclusion studies, at an additional charge. 

Extracted DNA Sample 

10 micrograms is generally sufficient for most tests. 

If DNA is sent as a specimen, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.

Sorted Cells  

You MUST call 513-636-2731 and 513-636-4685 in advance for specimen requirements and to schedule cell sorting. If sending sorted cells, 1> x 106 is optimal. 

Bone Marrow  

Bone marrow aspirate volume:  One EDTA (lavender top) tube containing 3-5 mL whole sterile bone marrow.   

Exclusion: Bone marrow aspirate slides are not acceptable.  

Fresh, Frozen Tissue Samples 

  • Volume:  At least 0.5cm3 (100 mg) tissue sample flash frozen and shipped on dry ice by overnight Federal Express. Heart or muscle is preferred tissue type.    
  • Exclusions: Liver and lung tissues are not acceptable.   

Paraffin Embedded Tissue  

Call 513-803-5390 to discuss available sample and testing requested prior to shipment.

Contact Us

For more information about Molecular Genetics Laboratory services, call 513-636-4474 or send us an email.
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