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Next-Gen Sequencing-based Known Mutation Testing (KT2-NG)

Information for Ordering

{slide=Acceptable Specimen Types}
  •  Fresh blood sample (3-6 ml EDTA; no time limitations associated with receipt)
  •  Saliva (OGR-575 DNA Genotek; kits are provided upon request)
  •  DNA (extracted from lymphocyte cells; a minimum volume of 25μL at 3μg; O.D. of 260:280nm ≥1.8; must be extracted in a CLIA or equivalent certified lab)
  •  Fresh, sterile semen collection using a local sperm bank/cryobank facility


{slide=Turnaround Time}

Average = 30 working days


{slide=Price, CPT codes, and Z code}

$700 (USD- institutional/self-pay price)

CPT: 81479

Z code: ZB67W


{slide=Candidates for Testing}

Patients who want to prepare for prenatal/pre-implantation diagnosis and for predictive testing for individuals at risk of inheriting an already known pathogenic variant with detection of mosaicism for at least 3-5% of the variant allele fraction (VAF)


{slide=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).

To request a sample collection kit, please click here or email medgenomics@uabmc.edu to complete the specimen request form.

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.


{slide=Required Forms}

Test Requisition Form

Other phenotypic checklists:
NF2 and Schwannomatosis Phenotypic Checklist
SMARCB1 / ATRT Phenotypic Checklist
TSC Phenotypic Checklist

Form for Customs



{slide=Test Description}

We offer targeted detection of a previously characterized pathogenic variant within the family. From a fresh EDTA blood sample, DNA is extracted directly and the target region is amplified and analyzed using Next-Generation sequencing-based targeted testing with deep coverage of the alleles. This analysis provides detection of mosaicism for a known variant present in at least 3-5% variant allele fraction (or lower, depending on the gene analyzed). To offer this testing service, the proband’s variant must be identified by our laboratory before testing relatives.

REFERENCES available here.


Other related test options:

For more information, test requisition forms, or sample collection and mailing kits, please call: 205-934-5562.

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