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Interpretive Handbook

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Test 85319 :
Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Familial dysautonomia affects sensory, parasympathetic, and sympathetic neurons. Patients experience gastrointestinal dysfunction, pneumonia, vomiting episodes, altered sensitivity to pain and temperature, and cardiovascular problems. Progressive neuronal degeneration continues throughout the lifespan.

 

Mutations in the IKBKAP gene cause the clinical manifestations of familial dysautonomia. The carrier rate in the Ashkenazi Jewish population is 1/31. There are 2 common mutations in the Ashkenazi Jewish population: IVS20(+6)T->C and R696P. The carrier detection rate for these 2 mutations is 99%.

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier screening for individuals of Ashkenazi Jewish ancestry

 

Prenatal diagnosis for at-risk pregnancies

 

Confirmation of a clinical diagnosis in individuals of Ashkenazi Jewish ancestry

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay will not detect all of the mutations that cause familial dysautonomia. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

In rare cases, DNA alterations of undetermined significance may be identified.

 

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008 Jan;10(1):54-56

2. Gold-von Simson G, Axelrod FB: Familial dysautonomia: update and recent advances. Curr Probl Pediatr Adolesc Health Care 2006 Jul;36(6):218-237


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