Test Code MAPTZ MAPT Gene, Sequence Analysis, 7 Exon Screening Panel, Varies
Useful For
Aiding in the diagnosis of frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, and dementia with epilepsy
Distinguishing the diagnosis of frontotemporal dementia from other dementias, including Alzheimer dementia
Identifying individuals who are at risk of frontotemporal dementia
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)/DNA Sequencing Analysis
Reporting Name
MAPT Gene, Sequencing AnalysisSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Frozen | |||
Refrigerated |
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Clinical Information
Frontotemporal dementia is a familial adult-onset, presenile dementia that affects the frontal and temporal cerebral cortices. Clinical presentation is variable and includes changes in behavior, difficulties with language, rigidity, palsy, and saccadic (rapid) eye movement. Symptoms generally begin between 40 and 60 years of age, with mean age of onset at approximately 45 years, and typically last between 5 and 10 years, progressing to severe dementia and mutism. The presentation of frontotemporal dementia may be confused with other dementias, including Alzheimer disease. It is important to distinguish between these different dementias because progression and patient management are different for the various dementias.
Based on the immunohistochemical staining, there are 2 main subtypes of frontotemporal lobular degeneration (FTLD): tau-positive FTLD and tau-negative FTLD with ubiquitin-positive inclusions (FTLD-U). Mutations in the MAPT gene have been identified in patients with tau-positive FTLD; mutations in the progranulin gene (GRN) have been identified in patients with FTLD-U. Both MAPT and GRN are located on chromosome 17q21.
The MAPT gene encodes the microtubule-associated tau protein. A number of mutations have been identified in the MAPT gene that result in aggregation of the tau protein. Although there is variable expression of disease presentation and severity within and between families, the hallmark neurologic lesion constitutes tau-positive protein inclusion bodies. Most clinically significant mutations are found in exons 9 through 13. Several intronic mutations, associated with alternative splicing of the mRNA, contribute to the variability of expression of the disease traits. Mutations in the MAPT gene have also been identified in cases of progressive supranuclear palsy, corticobasal degeneration, and dementia with epilepsy.
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Performed weekly; Varies
Analytic Time
14 daysPerforming Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81406-MAPT (microtubule-associated protein tau) (eg, frontotemporal dementia), full gene sequence
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
MAPTZ | MAPT Gene, Sequencing Analysis | 41092-8 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
53964 | Result Summary | 50397-9 |
53965 | Result | 82939-0 |
53966 | Interpretation | 69047-9 |
53967 | Additional Information | 48767-8 |
53968 | Specimen | 31208-2 |
53969 | Source | 31208-2 |
53970 | Released By | 18771-6 |
NY State Approved
YesForms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
- Informed Consent for Genetic Testing (T576)
- Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information in Special Instructions
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.