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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

 

Reflex Tests

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

Testing Algorithm

If amniotic fluid (non-confluent cultured cells) is received, amniotic

fluid culture/genetic test will be added and charged separately. If

chorionic villus specimen (non-confluent cultured cells) is received,

fibroblast culture for genetic test will be added and charged separately.

Testing Guides and Forms

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 

Method Name

Polymerase Chain Reaction (PCR) with Luminex Technology
(PCR is utilized pursuant to a license agreement with Roche
Molecular Systems, Inc)

Reporting Name

Familial Dysautonomia, Mutation

Ordering Mnemonic

FD

Aliases

Hereditary Sensory and Autonomic Neuropathy, Type III

HSAN-III

Riley-Day Syndrome

Key