1.   Microsatellite Instability (MSI)
We request formalin-fixed, paraffin-embedded tissue samples.

Please submit:

• 6 slides of tumor sample (5 micron serial sections, unstained; 1 H/E stained)
• 6 slides of matched normal tissue (bordering tissue, normal lymph node(s), unstained; 1 H/E stained)
• Blood samples: 2 tubes (6 ccs each) in ACD (yellow top) or EDTA (lavender top) tubes (blood sample is used as a back-up normal control in case normal control from tissue sample is unsuccessful)

Ensure that the slides are clearly labeled with the patient name or identifier, date of birth and type of sample (tumor, normal). Place slides in appropriate containers to ensure against breakage.

Alternatively, the paraffin blocks may be submitted.

2.   Immunohistochemistry (IHC)
We request formalin-fixed, paraffin-embedded tissue samples. Ensure that the blocks are clearly labeled with the patient name or identifier, date of birth and type of sample (tumor, normal). A copy of the pathology report should accompany the tissue block. We prefer to receive tissue blocks, but if they are not available, we will accept unstained slides (please submit one slide per antibody to be tested plus one for H&E, cuts must be 4 microns thick). Place slides in appropriate containers to ensure against breakage.

3.   Epidermal Growth Factor Receptor (EGFR) full mutation analysis
Formalin-fixed, paraffin-embedded tissue samples are accepted. We require one H&E slide (4 micron section) with a coverslip to serve as a reference slide, and five unstained slides (10 micron sections) with no coverslips. If the sample is a needle biopsy or clearly has very little tumor, please send additional slides. Ensure that the slides are clearly labeled with the patient name or identifier and date of birth and type of sample. Place slides in appropriate containers to ensure against breakage. Alternatively, the paraffin blocks may be submitted (they will be returned). Please call for any questions regarding sample requirements.

4.   Prenatal Specimen Requirements
Amniocentesis/CVS samples: 2 T25 flasks of confluent cells sent padded to arrive on M/Tu/W/Th. Testing is not available on uncultured amniocentesis or CVS.

A blood sample from the mother is also required (6 ccs in ACD, yellow top) for use as positive control. Maternal cell contamination studies are not done here but are required for autosomal disorders and dosage analysis on X-linked disorders. MDL can assist in coordinating sending out a specimen for this purpose.

Amniocentesis and CVS samples are accepted for prenatal testing only for known mutations. MDL does not perform carrier testing on a female fetus for hemophilia A or B. A copy of the cytogenetics report is required on samples sent in for prenatal diagnosis.

Mutation is known in the family:
• The proband was tested at City of Hope: 
    1. Please send a copy of the report along with the sample. Please be sure that the report clearly shows the accession number and the mutation that was identified.
• The proband was not tested at City of Hope:
Please provide:
    1. A copy of the report. Please be sure that the report clearly shows the mutation that was identified.
    2. A blood sample from an affected proband. This sample will be used as a control. There will be no charge for this sample.

If there is a KNOWN deletion in the family, depending upon the deletion itself, we are often able to perform carrier testing in a female. To order this testing, please check the corresponding RD-CAS assay from the list of tests on the Test Request Form. Please provide a copy of the report describing the deletion.

No mutation is known in the family:
The most ideal situation is always to test an affected individual first. The sensitivity of testing in affected males is 95-98%. Once the mutation is identified in the family, definitive carrier testing can be done for the known mutation in the female.

If no affected male is available, the next best option is to test an obligate carrier. In females for which intron 22 & intron 1 inversion analysis and full sequencing is done, the sensitivity of testing is 85-88% (large heterozygous deletions are not detected in females). With the additional testing of dosage analysis (F8-RD-SEQ), the sensitivity of testing in a female is ~95%. It is better to test an obligate carrier than a possible carrier because negative test results are more informative. If a mutation is not detected in an obligate carrier, it can be deduced that she most likely has a large deletion that is not detectable by sequencing. Once the mutation is identified in the family, definitive carrier testing can be done for the known mutation in the female.

If no affected male or obligate carrier is available, City of Hope will accept the sample from the possible carrier. Again, in females for which intron 22 & intron 1 inversion analysis and full sequencing, and dosage analysis are done, the sensitivity of testing is ~95%. In this situation, if a mutation is not detected, it is not known whether there was an undetectable mutation or she is a truly negative. (If the obligate carrier was tested first and a mutation was identified, it would be known that she is a true negative. If the obligate carrier was tested first and a mutation was not identified, we would know that the likely mutation is a large deletion not detected through our dosage assay or an undetectable mutation).

Yes!   There are two convenient ways to process insurance cases.

1. Verification of insurance coverage before sending in the sample. MDL will verify coverage the case before the sample is sent in. For verification: 

• Fax a completed Test Request Form (TRF) to the fax number on the Contacts page.
• Clearly write “For Verification” on the top of the test request form and on the fax cover letter.
• Fax a copy of the insurance card (front and back).
• Many insurance companies require a letter of medical necessity. It is not required to provide one, however it is strongly recommended.
• HMO samples are handled differently; please see What is required for processing HMO insurance plans?
• Allow several weeks for insurance verification.
• We will contact the “contact person” to let them know what the insurance company will cover. 
• If the insurance company has denied the claim or the patient is not willing to cover the remainder of the cost, the following options are available:
   The billing can be transferred to institutional billing (see Institutional Billing).
   The patient can decide not to pursue testing.

Here is the Test Request Form (TRF) Sample for Insurance Billing

• Send the sample with a completed test request form to MDL.
• Provide a copy of the insurance card (front and back).
• Many insurance companies require a letter of medical necessity. It is not required to provide one, however it is highly recommended.
• HMO samples are handled differently, please see What is required for processing HMO insurance plans?
• Allow several weeks for insurance verification.
• We will contact the “contact person” to let them know what the insurance company will cover.
• If the insurance company has denied the claim or the patient is not willing to cover the remainder of the cost, the following options are available:
   The billing can be transferred to institutional billing.(see Institutional Billing).
   MDL can cancel the test with no charge for the DNA extraction.

We do not accept Medicaid from states other than California.