Frequently Asked Questions

Submitting Specimens

Do you accept samples on Saturdays?

Yes. If sending a sample on a Friday, please be sure to mark the FedEx airbill appropriately noting Saturday delivery. If using a FedEx label from a kit supplied by Allele, Saturday delivery is included.

How do I order a test?

There are two ways to order testing through Allele. Our test requisitions may be printed from our website, completed, and sent with the sample. Alternatively, our web portal allows you to order testing online. If you order online, the portal generates a completed test requisition form that you can save electronically and print to send with the sample.

What are your sample requirements?

We accept prenatal, pediatric, and parental specimens. Sample requirements will depend on the testing being ordered. Please see our sample requirements page for detailed specimen types accepted for different tests, and call to inquire about test availability for other specimen types.

What are your minimum specimen requirements for newborn blood?

We typically ask for 2 mL of blood for microarray analysis (1 mL in EDTA/lavender top and 1 mL in sodium heparin/green top). However, in the neonatal setting, it may not be possible to collect a full 2 mL of blood. When ordering microarray only, we require a minimum of 0.5 mL in a sodium heparin vacutainer or microtainer. This specimen is also adequate if follow-up FISH is recommended in the proband report. If additional molecular testing is desired, a blood specimen in an EDTA tube is required. If you are uncertain whether a specimen is adequate, please contact us at 844-255-3532 or info@allelediagnostics.com to discuss.

What are your minimum requirements for prenatal specimens?

Our specimen requirements for prenatal testing are listed on our sample requirements page. Minimum specimen requirements will depend on which test(s) are ordered. If you have questions about a specific specimen and whether it will meet the requirements for testing, please contact us at 844-255-3532 or info@allelediagnostics.com to discuss.

Is there a difference between submitting a buccal swab and a peripheral blood sample for microarray?

Microarray testing can be performed from either sample. However, both karyotype and FISH visualization of abnormal array results are only possible if a peripheral blood specimen in sodium heparin (green top) is submitted. Note that the DNA yield from buccal swabs is typically much lower than the DNA yield from blood specimens and may be lower quality. As a result, buccal swab specimens have a slightly higher risk of microarray failure than blood specimens and may not provide adequate DNA to perform multiple tests. For these reasons, a blood specimen is preferred over a buccal swab whenever possible. See question above related to minimum specimen requirements for newborn blood.

When are maternal cell contamination studies recommended vs. required?

Maternal cell contamination (MCC) testing is used to rule out the presence of maternal cells within a fetal sample, as the potential presence of maternal cells can lead to an inaccurate interpretation of DNA-based test results.

We recommend ordering MCC testing in tandem with our prenatal microarrays (test #110 and test #111). This is especially important when submitting product of conception specimens due to the frequent presence of maternal cells. MCC testing is required for other types of prenatal molecular testing ordered through our laboratory. It should also be considered for cord blood specimens submitted from newborn patients.

Please submit 3-5 mL of maternal blood in EDTA or a maternal buccal swab in addition to the fetal/neonatal specimen for this test.

When is parental testing recommended?

As with most genetic tests, the results obtained from our microarray and karyotype services may affect not just the patient, but also their family members. Parental testing may be recommended for identification of carrier status and for determination of recurrence risk, and in these instances the testing is clinically indicated. For findings of unclear clinical significance, parental testing could be considered. However, since many genetic disorders manifest in complex and variable phenotypes, finding a similar copy change in a parent does not necessarily exclude a causal relationship. Parental testing should be considered on a case-by-case basis, and the specific approach to parental testing depends on the abnormality identified in the proband. Specific testing recommendations will be listed in the proband report. If you have specific questions, we recommend contacting us at 844-255-3532 or info@allelediagnostics.com.

If additional testing is needed for my patient do I need to submit a new sample?

Stabilized DNA specimens are retained at Allele Diagnostics unless prohibited by specific state mandates. Please contact our laboratory to assess if sufficient sample is available for the testing you would like to add. Specimen availability is dependent upon when previous testing was performed, the type of testing that was performed, and the type of testing that will be added. Note that karyotype and FISH analysis are not possible on archived DNA samples.

Does Allele Diagnostics require consent forms?

Consent form requirements vary based on the state from which the sample is submitted. We recommend that all genetic tests are ordered following a thorough discussion between the provider and patient in which the benefits and limitations of the testing are discussed, however we do not require that we receive a copy of the consent form to process a sample for cytogenetic testing (microarray, FISH, and karyotype). When ordering molecular testing, we ask for an attestation of the ordering provider that the patient has consented to the testing being ordered.

After testing is completed, can I request that DNA be shipped from Allele Diagnostics to another laboratory?

Yes. We can forward DNA to the laboratory of your choice. We ask that you provide a completed requisition for the lab the DNA will be shipped to and a completed specimen release form. This form asks for specimen type and quantity required, a method of payment for shipping, such as a prepaid label or FedEx account number, and the shipping address of the receiving laboratory. PLEASE NOTE: Specimens will be shipped to laboratories/medical facilities with valid U.S. addresses only.

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Tests

I need a rapid result on a neonate. Can I order aneuploidy FISH?

We do not offer aneuploidy FISH, as our rapid array can provide more information in a comparable turnaround time (2-4 business days). Aneuploidy FISH is a screening test designed to quickly identify common aneuploidies and requires confirmatory testing. The rapid microarray does not require follow-up confirmatory testing and has a significantly higher resolution to detect smaller copy number variants in addition to the aneuploidies targeted by rapid FISH. If you would like to discuss this option in more detail, please contact us at 844-255-3532 or info@allelediagnostics.com.

What is the difference between the high-resolution rapid microarray (test #110) and the targeted rapid microarray with backbone (test #111)? When would I order each?

Both the high-resolution rapid microarray and the targeted rapid microarray are useful for rapidly detecting most large and small structural chromosome abnormalities as well as copy-neutral absence of heterozygosity. Follow-up FISH visualization of copy gains and losses identified on the microarray is included in both tests.

Our high-resolution rapid prenatal microarray is the same test we run on pediatric patients. The targeted microarray with backbone is designed with lower density to decrease (but not eliminate) the likelihood of an unclear result/variant of uncertain significance while still providing whole genome coverage.

Please contact our genetic counselors at 844-255-3532 or info@allelediagnostics.com for assistance in determining the best test for your patient or if you have additional questions about the difference between these two test options.

What if I have questions about test results?

Our goal is to provide a clear and comprehensive report that is understandable. However, we recognize that questions may arise about results, so our genetic counselors are available to discuss questions or concerns with healthcare providers caring for patients/families.

Unfortunately, we cannot discuss or answer questions regarding results with patients directly. We are happy to work with the healthcare team to ensure patients get their questions answered.