Prenatal Testing

Information below about tests commonly utilized in prenatal patients highlights the utility of ordering each test in this population. For more comprehensive information about each test, follow the links below. Our complete test menu provides further information as well, including additional tests offered to complete your patient’s needs.

Prenatal testing options

High resolution rapid microarray*

Useful in identifying large and small chromosomal gains and losses, ranging in size from single gene deletions and duplications to microdeletion/duplication syndromes to whole chromosome trisomies and monosomies. Whole genome coverage with higher density in regions of known syndromes and backbone to identify abnormalities in novel regions. Copy number alterations are FISH visualized. SNP component can detect triploidy and regions of absence of heterozygosity (AOH) that may be associated with imprinting disorders or autosomal recessive conditions. Will not detect balanced abnormalities. Microarray reported within 2-4 business days of sample receipt; FISH results are reported within 7 days of abnormal microarray report.

Targeted rapid microarray with backbone*

Useful in identifying large and small chromosomal gains and losses of chromosomes, including trisomies and microdeletion/duplication syndromes. The platform utilizes a less dense backbone compared to Allele Diagnostics' high resolution rapid microarray reducing the likelihood of unclear results. SNP component can detect triploidy and regions of absence of heterozygosity (AOH) that may be associated with imprinting disorders or autosomal recessive conditions. Will not detect balanced abnormalities. Microarray reported within 2-4 business days of sample receipt; FISH results are reported within 7 days of abnormal microarray report.

Standard karyotype

Useful in identifying large structural abnormalities (5-10 Mb or larger), both balanced and unbalanced. Useful in conjunction with microarray to identify balanced abnormalities that microarray is not designed to detect. Standard karyotype reported in 7-10 days.

AFP with reflex to AChE

Useful in identifying open neural tube defects and possibly abdominal wall defects by the assessment of alpha fetoprotein (AFP) in amniotic fluid. Acetylcholinesterase (AChE) will be run automatically if AFP is increased. AFP results reported within 3-4 days of specimen receipt, AChE reported within 3-11 days.

Maternal cell contamination studies

This test is used to rule out the presence of maternal cell contamination (MCC) within a fetal sample, as the potential presence of maternal cells within a prenatal sample can lead to an inaccurate interpretation of DNA based test results. MCC studies are recommended for all microarray and molecular testing. Microarray reports will be amended to include the results of maternal cell contamination studies once MCC studies are complete.

Panels (sequencing, methylation, UPD)

We have numerous molecular panels available through our partner laboratories. Panels include syndrome-specific testing and panels designed based on phenotypic features. Single gene sequencing is also available. See our test menu for a list of selected common sequencing tests, or call to inquire if you have a specific test in mind that is not listed. Specimen requirements are listed for each test.

Ordering

To order testing for your patients, you may complete a Prenatal Test Requisition Form or log in to our secure online portal. If additional testing, such as sequencing or FMR1 analysis, is desired, please specify the desired additional testing on the Prenatal test requisition form. Also, please contact Allele Diagnostics at 844-ALLELE2 or info@allelediagnostics.com to discuss the addition of these tests prior to sending the sample.

*Rapid microarray is available on direct amniotic fluid samples and all cultured cells. Please call to inquire about availability for direct CVS or POC specimens.
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