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RNA-based Known Mutation Testing (RT2)

Information for Ordering

{slide=Acceptable Specimen Types}

• Fresh blood sample (3-6 ml EDTA; must be received within 60-72 hours of collection)


{slide=Turnaround Time}

Average = 22 working days


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

$500 (USD- institutional/self-pay price)

CPT: 88230 and 81403

Z code: ZB68I


{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 variant in the NF1, or NF2 gene


{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
PTEN Phenotypic Checklist

Form for Customs



{slide=Test Description}

For RNA based testing, a whole blood specimen should be provided in an EDTA vacutainer tube within 60-72 hours to ensure viability of the lymphocyte cells.  We offer targeted detection of a previously characterized variant 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 variant must be identified by our laboratory before testing relatives.

Important information regarding NF1:

With the largest dataset of NF1 genotypes matched with phenotypes, any genotype-phenotype correlations identified will be reported in real time. Confirmatory testing of reportable variants is performed using orthogonal methods as needed. For novel NF1 variants of unknown significance, we offer free of charge targeted RNA-based testing to assess the effect of the variant on splicing and enhance the correct classification/ interpretation of this novel variant.

Relevant family members of a proband with a (novel or previously identified) variant of unknown significance are offered free of charge targeted analysis as long as accurate phenotypic data are provided by a health care professional to enhance the interpretation. There is no limitation to the number of relatives that can be tested free of charge in such families.

Mosaicism is often present in sporadic patients with anNF1 microdeletion and has important repercussions for counseling. Evaluation by FISH analysis on 200 interphase chromosomes can be offered in such cases.

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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