Test Code | D0600E | |
Test Summary | STAT prenatal single-site testing |
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Turn-Around-Time (TAT)* | 3 weeks | |
Acceptable Sample Types | Cultured Amniocytes Cultured Chorionic Villi DNA, Isolated Products of Conception |
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Acceptable Billing Types |
Self (patient) Payment Institutional Billing
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This STAT test is for prenatal use and involves testing for known variant(s) where a fetus has presented with specific features of a single gene disorder or known familial variant.
Known disease causing variant in the family history
Fetal anomaly
The purpose of this test is to find the underlying genetic cause for prenatal findings or known family history of a single gene disorder.
Next-generation sequencing technology for focused, diagnostic single-gene testing.
Please contact a PKIG Laboratory genetic counselor for these requests.
Two T-25 flasks
All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. If blood is unavailable, we will accept genomic DNA and Saliva sample types.
For prenatal samples, PerkinElmer will provide a shipping label to use for shipping the sample to our lab. Please call 1 (866) 354-2910 to arrange this. At this time, you will also be connected to a laboratory genetic counselor to answer any questions about the testing.
Required DNA Quantity by Test Type*:
- Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
- Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
- Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
- Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
- Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor prior to submitting a DNA sample from any non-CLIA certified laboratory.
- Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
Sterile, screw-top container filled with tissue culture transport medium.
All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. Transport products of conception and/or fresh tissue (minimum: 10 mg) in sterile, screw-top container filled with tissue transport medium. Do not place in formalin. If specimen is too large for normal collection tube, a larger sterile container can be used.
For prenatal samples, PerkinElmer will provide a shipping label to use for shipping the sample to our lab. Please call 1 (866) 354-2910 to arrange this. At this time, you will also be connected to a laboratory genetic counselor to answer any questions about the testing.