Next Generation Sequencing-based Known Variant Testing (KT2-NG)
Information for Ordering
Acceptable Specimen Types
- Fresh blood sample: 3–6 mL EDTA; no time limitations associated with receipt
- Saliva: OGD-575 DNA Genotek collection kit; kits are provided upon request
- DNA extracted from lymphocyte cells: minimum volume of 25 µL containing 3 µg of DNA; A260/A280 ratio ≥1.8; must be extracted in a CLIA-certified or equivalent laboratory
- Fresh, sterile semen collected through a local sperm bank or cryobank facility
Turnaround Time
Average turnaround time: 30 working days
Price, CPT Code, and Z Code
- Institutional/self-pay price: $700 USD
- CPT code: 81479
- Z code: ZB67W
Candidates for Testing
Patients preparing for prenatal or preimplantation genetic testing and individuals at risk of inheriting a previously identified pathogenic variant when detection of mosaicism at approximately 3%–5% variant allele fraction is needed.
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
Other phenotypic checklists:
- NF2 and Schwannomatosis Phenotypic Checklist
- SMARCB1 / ATRT Phenotypic Checklist
- TSC Phenotypic Checklist
About
Test Description
We offer targeted detection of a previously characterized familial pathogenic variant. DNA is extracted from the submitted specimen, and the target region is amplified and analyzed using next-generation sequencing with deep allele coverage. This analysis permits detection of mosaicism for a known variant present at approximately 3%–5% variant allele fraction, or lower depending on the gene analyzed. 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
For more information, test requisition forms, or collection kits, please contact the UAB Medical Genomics Laboratory at 205-934-5562 or medgenomics@uabmc.edu.