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Known Mutation Testing (KT2)

Acceptable specimen types:

• Blood (2-3ml EDTA; no time limitations associated with receipt)
• Saliva (OGR-575 DNA Genotek; kits are provided upon request),
• DNA (extracted from lymphocyte cells, a minimum of 3μg, O.D. value at 260:280nm ≥1.8)

Turnaround time:

• 10 working days

Candidates for this test:

• Predictive testing for individuals at risk of inheriting an already known mutation
• Individuals who want to prepare for prenatal / pre-implantation diagnosis

TEST DESCRIPTION

We offer targeted detection of a previously characterized mutation 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 mutation 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 novelNF1variants 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.

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. For additional details associated with our RNA based testing platform, please review our RNA-based NF1/SPRED1 Sequencing and Deletion/Duplication page.

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 anNF1microdeletion and has important repercussions for counseling. Free of charge evaluation by FISH analysis on 200 interphase chromosomes is offeredfree of chargein such cases.

SPECIMEN SHIPPING AND HANDLING:

• Please find specimen requirement specifications above.
• All submitted specimens must be sent at room temperature.DO NOTship 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.eduto 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

Please complete the Request Form associated with the disorder

Form for Customs (for international shipments)

Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.  

Requests for Molecular Genetic testing will not be accepted for the following reasons:

• No label (patients full name and date of collection) on the specimens
  
• No referring physician’s or genetic counselor’s names and addresses
  
• No billing information