Explore UAB

Known Mutation Testing (KT2)

Information for Ordering

{=slideAcceptable 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)


Turnaround Time

Average = 15 working days

Price, CPT codes, and Z code

$250 (USD- institutional/self-pay price)

CPT: 81403

Z code: ZB67K

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.

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.

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


Test Description

We offer targeted detection of a specific, previously characterized variant in any gene that is available in our lab. From a fresh EDTA blood sample, analysis can be performed by Sanger sequence, MLPA, and/or FISH. 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.

First-degree relatives 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. Free of charge testing for additional relatives is at the discretion of the lab director.

Mosaicism is often present in sporadic patients with an NF1 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.

← Return to Known Mutation Testing