Create PDF
Test Code D0600E
Test Summary

STAT prenatal single-site testing
Turn-Around-Time (TAT)* 3 weeks
Acceptable Sample Types
Cultured Amniocytes
Cultured Chorionic Villi
DNA, Isolated
Products of Conception
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Test Description

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.

Indications For Testing

Known disease causing variant in the family history
Fetal anomaly

Condition Description

The purpose of this test is to find the underlying genetic cause for prenatal findings or known family history of a single gene disorder.

Test Methods and Limitations

Next-generation sequencing technology for focused, diagnostic single-gene testing. 

Detailed Sample Requirements

Cultured Amniocytes
SPECIAL INSTRUCTIONS
Please contact a PKIG Laboratory genetic counselor for these requests.
Cultured Chorionic Villi
Collection Container(s):

Two T-25 flasks

Collection:

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.

Condition: Transfer cultured amniocytes or cultured CVS to two T-25 flasks at ≥80% confluence.
Shipping: Cultures topped off with sterile medium and shipped immediately at ambient temperature by overnight express with arrival Monday-Friday only.
SPECIAL INSTRUCTIONS
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.
DNA, Isolated
Collection:

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.

 

Condition: * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping: Ship overnight at ambient temperature.
SPECIAL INSTRUCTIONS
  • 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.
Products of Conception
Collection Container(s):

Sterile, screw-top container filled with tissue culture transport medium.

Collection:

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.

Condition: If the autopsy is performed: Facia lata, diaphragm, tendon, skin, tissue from internal organs (if fresh), chest wall cartilage (particularly if macerated), or placenta from fetal side. If no autopsy is performed: Placenta from fetal side is preferred, e.g., villi. Umbilical cord is also acceptable. State clearly in the TRF whether the tissue was of fetal or placental in origin.
Shipping: Shipped immediately at ambient temperature or with a cold pack, especially under hot weather to the laboratory by overnight express with arrival Monday-Friday only. Alternatively, fresh POC and/or tissue samples can be snap-frozen and kept at -80°C. Frozen tissue samples should be shipped overnight on dry ice with arrival Monday-Friday only - NO WEEKEND SHIPMENTS!
SPECIAL INSTRUCTIONS
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.

Resources