Frequently Asked Questions

Yes, a properly completed Test Request Form (TRF) is required for all tests. Clinical information and a pedigree is recommended for all tests. Providing this information is critically important in helping us to interpret genotype variations and to provide optimal genotype analysis on your patient.

Listing of CPT codes. They are also provided on the printable version of the Test Request Form (TRF).

Specimen Requirements
 

TESTS FOR HERITABLE GENETIC DISORDERS

Blood samples: 2 tubes with a total of volume of 6 ccs in EDTA (lavender top)  or ACD (yellow top) tubes. Keep at ambient temperature and ship by overnight courier. Samples must be received in our laboratory within 72 hours of draw.
Exceptions:

  • For infants, lower volume is acceptable (2-3 cc)
  • Patients with a hematological neoplasia, or who have had a bone marrow transplant , or peripheral stem cell transplant should not send blood (see “Saliva”)
DNA:  ~10 micrograms, high quality DNA
Saliva: saliva samples collected in Oragene saliva kit
Prenatal samples: 2 T25 flasks, cultured amniocytes or CVS (at least 75%).
             Keep at ambient temperature and ship by overnight courier to arrive in the lab on M/Tu/W.
  • Note: Maternal cell contamination (MCC) studies are required and performed as part of the prenatal test; therefore, blood sample from Mom is also required ( if not previously tested in this lab).

TESTS PERFORMED ON TUMORS

Microsatellite Instability (MSI)

Formalin-fixed, paraffin-embedded (FFPE) tissue samples.  Please submit:

  • 6 slides of tumor sample (10 micron serial sections, unstained; 1 H/E stained).
  • 6 slides of matched normal tissue (e.g. bordering tissue, normal lymph node(s), 10 micron unstained; 1 H/E stained).
  • Blood samples (if no normal tissue available): 2 tubes (6 ccs each) in ACD (yellow top) or EDTA (lavender top) tubes

Ensure that the slides are clearly labeled. A copy of the pathology report should accompany the specimen. Place slides in appropriate containers to ensure against breakage. Alternatively, the paraffin blocks may be submitted.

Immunohistochemistry (IHC)

Formalin-fixed, paraffin-embedded (FFPE) tumor tissue samples.  Ensure that the blocks are clearly labeled. 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.

MLH1 somatic promoter methylation (MLH1-METH)
Formalin-fixed, paraffin-embedded (FFPE) tissue samples.   Please submit:
  • 6 slides of tumor sample (10 micron serial sections, unstained; 1 H/E stained).

Ensure that the slides are clearly labeled. A copy of the pathology report should accompany the specimen. Place slides in appropriate containers to ensure against breakage. Alternatively, the paraffin blocks may be submitted.

Tumor oncology (Onco48 panel, OncoFusions, Onco48-Plus-Fusions, EGFR, KRAS, BRAF, cKIT, PDGFRA, etc)

Formalin-fixed, paraffin-embedded (FFPE) tumor  tissue samples (providing  at least 3000 tumor cells and at least 30% tumor). Blocks are preferred (unused portion will be returned), but slides are also accepted. For slides, please submit:

  • 10 slides, 10 micron serial sections, unstained, without coverslip.
  • 1 representative H&E slide, 4 micron section, with a coverslip.

If the sample is a needle biopsy or clearly has very little tumor, please send additional slides. Ensure that the slides are clearly labeled. A copy of the pathology report should accompany the specimen. Place slides in appropriate containers to ensure against breakage.

Prosigna-Breast

Formalin-fixed, paraffin-embedded (FFPE) tissue from invasive breast carcinomas meeting clinicopathological criteria for testing. Blocks are preferred (unused portion will be returned), but slides are also accepted. For slides, please submit:

  • 10 slides, 10 micron serial sections, unstained, unbaked
  • 1 representative H&E slide, 4 micron section, with a coverslip (tumor area must be at least 4mm2 and with a minimum of 10% tumor cellularity)

Yes, females can be tested for hemophilia A/B. If a causative mutation for hemophilia A/B in the family is known, include a copy of the test results for the family member. If the familial alteration is not known, the following testing is recommended. The tests below can be done reflexively or concurrently, as ordered.

Female patient with personal history of hemophilia A or family history of severe/ unknown severity of  hemophilia A

  1. F8PBIa for factor VIII intron 22 inversion
  2. F8-Seq for factor VIII full gene sequencing
  3. F8-INV1 for factor VIII intron 1 inversion
  4. F8-Del  for factor VIII deletion/ duplication

Female patient with family history of mild/moderate severity of hemophilia A

  1. F8-Seq for factor VIII full gene sequencing
  2. F8-Del  for factor VIII deletion/ duplication

Female patient with family history of hemophilia B

  1. F9-Seq for factor VIII full gene sequencing
  2. F9-Del  for factor VIII deletion/ duplication

However, sensitivity is relatively lower in females.

Yes, females can be tested for DMD/BMD. If a causative mutation for DMD is known in a family member, include a copy of the test results for the family member. If the familial alteration is not known, the following testing is recommended. The tests below can be done reflexively or concurrently, as ordered.

  1. DMD-Seq ; DMD full gene sequencing
  2. DMD-DEL ; DMD gene deletion using MLPA

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