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Unit Code 85319:
Familial Dysautonomia, Mutation Analysis, IVS20( 6T>C) and R696P

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Useful For

Carrier testing for individuals with a family history of the disease

 

Prenatal diagnosis for at-risk pregnancies

 

Confirmation of clinical diagnosis of the disease

 

Clinical Information

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 gene encoding IkappaB kinase complex-associated

proteins (IKBKAP) cause the clinical findings of familial dysautonomia.

The carrier rate in the Ashkenazi population is 1/30. There are 2

common mutations in the IKBKAP gene in the Ashkenazi Jewish

population:  IVS20( 6)T->C and R696P. The disease detection rate

with these 2 mutations using this assay is 99%.

Reference Values

An interpretive report  which will include a risk analysis (probability

of being a carrier) will be provided.

Interpretation

The report will include specimen information, pedigree (when

appropriate), assay information, test results, and interpretation of

results.

Cautions

This direct DNA 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.

 

Any error in the diagnosis of the proband or in family relationships

provided in the pedigree will lead to an erroneous segregation

pattern and an incorrect interpretation of results.

 

Medical genetic consultation is recommended for all DNA diagnosis

cases and is particularly indicated in complex cases or in situations

where the diagnosis is atypical or uncertain.

 

Bone marrow transplants from allogenic donors will interfere with testing. 

Call Mayo Medical Laboratories for instructions for testing patients who

have received a bone marrow transplant.

Special Instructions and Forms

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 

Clinical Reference

Axelrod FB:  Familial dysautonomia. Muscle Nerve 2004;29:352-363

Key