Prenatal Known Variant Testing (PT2)
Information for Ordering
Acceptable Specimen Types
- Fresh maternal blood sample: 3–6 mL EDTA, submitted with or in advance of the prenatal specimen for maternal cell contamination studies. A delay in receipt may delay the turnaround time.
- Direct chorionic villus sampling (CVS): minimum 10 mg of pure villi
- Direct amniotic fluid: minimum 10 mL
- Two T25 flasks of cultured CVS cells: greater than 70% confluent
- Two T25 flasks of cultured amniocytes: greater than 70% confluent
Turnaround Time
6 working days
Price, CPT Codes, and Z Code
Please contact our Billing Coordinator at 205-934-5523 or sshelby@uabmc.edu if planning to use insurance. Recent policy changes may require prior authorization for prenatal testing.
- Institutional/self-pay price: $750 USD
- CPT codes: 81403 and 81265
- Z code: ZB67M
Candidates for Testing
Patients preparing for prenatal or preimplantation genetic testing and individuals at risk of inheriting a previously identified familial variant.
Specimen Shipping and Handling
Please refer to the specimen requirements listed above.
All submitted specimens must be shipped at room temperature. Do not ship specimens on ice.
Specimens must be packaged to prevent breakage. Absorbent material must be included to contain liquids if breakage occurs. Specimens must also be shipped in double watertight containers, such as a specimen pouch placed inside the shipping company’s diagnostic envelope.
To request a collection kit, please complete the Collection Kit Request Form .
Before shipping a specimen, please contact the UAB Medical Genomics Laboratory by email at medgenomics@uabmc.edu or by phone at 205-934-5562. Please provide the shipment date and package tracking number so the laboratory can help ensure receipt.
Required Forms
About
Test Description
We offer targeted detection of one or more previously characterized familial variants. DNA is extracted directly from the submitted specimen, and the target region is amplified and sequenced. To offer this testing service, the proband’s variant must have been identified by our laboratory before testing relatives.
View references for this testing .
Other Related Test Options
- Known Variant Testing (KT2)
- RNA-based Known Variant Testing (RT2)
- Next-Generation Sequencing-Based Known Variant Testing (KT2-NG)
For more information, test requisition forms, or collection kits, please contact the UAB Medical Genomics Laboratory at 205-934-5562 or medgenomics@uabmc.edu.