Prenatal Known Mutation Testing (PT2)
Acceptable specimen types:
Please be sure to provide a blood specimen (2-3ml whole blood, EDTA) for maternal cell contamination studies with (or in advance) of the submitted specimen. A delay in receipt may delay the testing turnaround as well.
- Direct CVS, (minimum 10 mg pure villi)
- Direct amniotic fluid (minimum 10 ml fluid)
- 2 T25 flasks of cultured CVS (>60% confluent)*
- 2 T25 flasks of cultured amniocytes. (>60% confluent)*
*Please Note: cultured cells are required for any multiexonic deletion/duplication targeted analysis.
Turnaround time:
- 6 working days
Candidates for this test:
- Predictive testing for individuals at risk of inheriting an already known mutation
- Individuals who want to prepare for prenatal / pre-implantation diagnosis
TEST DESCRIPTION
We offer targeted detection of a previously characterized mutation(s) within the family. From a fresh EDTA blood sample, DNA is extracted directly and the target region is amplified and directly sequenced. To offer this testing service, the proband’s mutation must be identified by our laboratory before testing relatives.
SPECIMEN SHIPPING AND HANDLING:
- Please find specimen requirement specifications above.
- All submitted specimens must be sent at room temperature. DO NOT ship on ice.
- Specimens must be packaged to prevent breakage and absorbent material must be included in the package to absorb liquids in the event that breakage occurs. Also, the package must be shipped in double watertight containers (e.g. a specimen pouch + the shipping company’s diagnostic envelope).
- Please contact the MGL (via email at medgenomics@uabmc.edu, or via phone at 205-934-5562) prior to sample shipment and provide us with the date of shipment and tracking number of the package so that we can better ensure receipt of the samples.
REQUIRED FORMS
Please complete the Request Form associated with the disorder
Form for Customs (for international shipments)
Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.
Requests for Molecular Genetic testing will not be accepted for the following reasons:
- No label (patients full name and date of collection) on the specimens
- No referring physician’s or genetic counselor’s names and addresses
- No billing information
For more information, test requisition forms, or sample collection and mailing kits, please call: 205-934-5562.
Other related test options:
- Known Mutation Testing (KT2/RT2)